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Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Marked gene: SLC25A19 as ready
Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Gene: slc25a19 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Classified gene: SLC25A19 as Green List (high evidence)
Hereditary Neuropathy - complex v1.14 SLC25A19 Bryony Thompson Gene: slc25a19 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.13 SLC25A19 Bryony Thompson gene: SLC25A19 was added
gene: SLC25A19 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 20301539
Phenotypes for gene: SLC25A19 were set to Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382
Review for gene: SLC25A19 was set to GREEN
gene: SLC25A19 was marked as current diagnostic
Added comment: Neuropathy is a feature of the condition
Sources: Literature
Hereditary Neuropathy - complex v1.12 SCA4_ZFHX3_GGC Bryony Thompson Marked STR: SCA4_ZFHX3_GGC as ready
Hereditary Neuropathy - complex v1.12 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.12 SCA4_ZFHX3_GGC Bryony Thompson Classified STR: SCA4_ZFHX3_GGC as Green List (high evidence)
Hereditary Neuropathy - complex v1.12 SCA4_ZFHX3_GGC Bryony Thompson Str: sca4_zfhx3_ggc has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.11 SCA4_ZFHX3_GGC Bryony Thompson STR: SCA4_ZFHX3_GGC was added
STR: SCA4_ZFHX3_GGC was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: SCA4_ZFHX3_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: SCA4_ZFHX3_GGC were set to 38035881; 38197134
Phenotypes for STR: SCA4_ZFHX3_GGC were set to spinocerebellar ataxia type 4 MONDO:0010847
Review for STR: SCA4_ZFHX3_GGC was set to GREEN
STR: SCA4_ZFHX3_GGC was marked as clinically relevant
Added comment: PMID: 38035881 - repeat expansion is identified in 5 Swedish ataxia families that developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades.
PMID: 38197134 - Poly-glycine GGC expansion in the last coding exon of ZFHX3 was identified in the original SCA4 Utah pedigree (Swedish origin) in the region of high linkage identified on 16q22. The expansion was also identified in an Iowa ataxia pedigree of Swedish ancestry. The expansion wasn’t identified in 11,258 exomes, 7,650 WGS probands without neurological phenotype, or 803 individuals with ataxia. Grch38 chr16:72787695–72787758
Normal allele <30 repeats, 21 repeats is the most common (derived from 33,094 individuals)
Undefined pathogenic 30-48 repeats
Definitive pathogenicity 48+ repeats
Sources: Literature
Hereditary Neuropathy - complex v1.10 NARS Zornitza Stark changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.
Hereditary Neuropathy - complex v1.10 NARS Zornitza Stark commented on gene: NARS: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).
Hereditary Neuropathy - complex v1.10 PLA2G16 Zornitza Stark Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683
Hereditary Neuropathy - complex v1.9 OPA3 Bryony Thompson Marked gene: OPA3 as ready
Hereditary Neuropathy - complex v1.9 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.9 OPA3 Bryony Thompson Classified gene: OPA3 as Green List (high evidence)
Hereditary Neuropathy - complex v1.9 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.8 OPA3 Bryony Thompson gene: OPA3 was added
gene: OPA3 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OPA3 were set to 31119193; 28050599
Phenotypes for gene: OPA3 were set to Optic atrophy 3 MONDO:0008133
Mode of pathogenicity for gene: OPA3 was set to Other
Review for gene: OPA3 was set to GREEN
gene: OPA3 was marked as current diagnostic
Added comment: Peripheral neuropathy has been reported in multiple individuals with ADOA associated with OPA3. Haploinsufficiency is not expected to be the mechanism of disease. Gain of function or dominant negative effect have been suggested mechanisms of disease.
PMID: 31119193 - 9 of the 12 affected individuals from 3 families with OPA3 missense (p.Met8Thr, & p.Gln105Glu) had a possible or confirmed peripheral neuropathy. Was presenting feature in a single case.
PMID: 28050599 - de novo c.235C>G p.(Leu79Val) identified in a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy.
Sources: Literature
Hereditary Neuropathy - complex v1.7 PLA2G16 Zornitza Stark Marked gene: PLA2G16 as ready
Hereditary Neuropathy - complex v1.7 PLA2G16 Zornitza Stark Added comment: Comment when marking as ready: HGNC name is PLAAT3
Hereditary Neuropathy - complex v1.7 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.7 PLA2G16 Zornitza Stark Tag new gene name tag was added to gene: PLA2G16.
Hereditary Neuropathy - complex v1.7 PLA2G16 Zornitza Stark Marked gene: PLA2G16 as ready
Hereditary Neuropathy - complex v1.7 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.7 PLA2G16 Zornitza Stark Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related
Hereditary Neuropathy - complex v1.6 PLA2G16 Zornitza Stark Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v1.5 PLA2G16 Zornitza Stark Classified gene: PLA2G16 as Green List (high evidence)
Hereditary Neuropathy - complex v1.5 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v1.4 PLA2G16 Lauren Rogers edited their review of gene: PLA2G16: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v1.4 PLA2G16 Lauren Rogers gene: PLA2G16 was added
gene: PLA2G16 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLA2G16 were set to PMID: 37919452
Phenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)
Review for gene: PLA2G16 was set to GREEN
Added comment: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.

Null mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ.
Sources: Literature
Hereditary Neuropathy - complex v1.4 COQ7 Zornitza Stark Phenotypes for gene: COQ7 were changed from Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894) to Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402
Hereditary Neuropathy - complex v1.3 COQ7 Zornitza Stark reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v1.3 PPOX Zornitza Stark Phenotypes for gene: PPOX were changed from Porphyria variegata, MIM# 176200 to Porphyria variegata, MIM# 176200; Variegate porphyria, childhood-onset, MIM# 620483
Hereditary Neuropathy - complex v1.2 PPOX Zornitza Stark Publications for gene: PPOX were set to
Hereditary Neuropathy - complex v1.1 PPOX Zornitza Stark Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v1.0 PPOX Zornitza Stark edited their review of gene: PPOX: Added comment: Bi-allelic variants cause childhood onset disease.; Changed publications: 9811936, 11286631, 33159949; Changed phenotypes: Porphyria variegata, MIM# 176200, Variegate porphyria, childhood-onset, MIM# 620483; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v1.0 Bryony Thompson promoted panel to version 1.0
Hereditary Neuropathy - complex v0.275 SPAST Bryony Thompson Marked gene: SPAST as ready
Hereditary Neuropathy - complex v0.275 SPAST Bryony Thompson Gene: spast has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.275 SPAST Sangavi Sivagnanasundram changed review comment from: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 322442913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; to: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 32242913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.
Hereditary Neuropathy - complex v0.275 SPAST Sangavi Sivagnanasundram Deleted their comment
Hereditary Neuropathy - complex v0.275 SPAST Sangavi Sivagnanasundram edited their review of gene: SPAST: Changed publications: 32242913, 22192498, 26374131, 20301339
Hereditary Neuropathy - complex v0.275 HEXA Bryony Thompson Marked gene: HEXA as ready
Hereditary Neuropathy - complex v0.275 HEXA Bryony Thompson Gene: hexa has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.275 PLA2G6 Sangavi Sivagnanasundram edited their review of gene: PLA2G6: Added comment: Established gene-disease associated with neuropathy as a clinical feature.

PMID: 25164370
9 individuals from 6 unrelated families with motor or sensory-motor neuropathy. All individuals were found to share the p.V691del variant which is a founder variant in the North African population.; Changed rating: GREEN; Changed publications: 25164370
Hereditary Neuropathy - complex v0.275 PDHA1 Sangavi Sivagnanasundram edited their review of gene: PDHA1: Added comment: PMID: 33661577
Young boy from China with lethal neuropathy and the presence of a de novo mutation in PDHA1 (c.1167_1170del; p.Ser390LysfsTer33) that is clinically significant for Leigh Syndrome. PDCD is known a biochemical pathway in individuals with Leigh Syndrome.

PMID: 36693417
Multiple reported individual with sensory-motor polyneuropathy and a high serum lactate. One individual identified with a hemizygous mutation (p.Arg88Cys) causative of pyruvate dehydrogenase complex deficiency.; Changed rating: GREEN; Changed publications: 33661577, 36693417, 34138529; Changed phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM#312170
Hereditary Neuropathy - complex v0.275 MTTP Sangavi Sivagnanasundram edited their review of gene: MTTP: Added comment: Reported in multiple individuals with progressive neuropathy due to the deficiency of fat-soluble vitamins (vitamins E, A, D, K). Neuropathy typically presents due to a lack of vitamin E in individuals.; Changed rating: GREEN; Changed publications: 10679949, 29540175
Hereditary Neuropathy - complex v0.275 HEXA Bryony Thompson Publications for gene: HEXA were set to
Hereditary Neuropathy - complex v0.274 ERCC8 Sangavi Sivagnanasundram edited their review of gene: ERCC8: Added comment: Established gene-disease association with progressive neuropathy a feature in individuals with Cockayne Syndrome.

PMID: 29422660
In vitro minigene assay was conducted to test the splice effect of c.173+1119G>C which showed the introduction of a premature termination codon at the end of exon resulting in loss of function of the ERCC8 protein.; Changed rating: GREEN; Changed publications: 25453614, 29422660, 4320535
Hereditary Neuropathy - complex v0.274 ERCC6 Sangavi Sivagnanasundram edited their review of gene: ERCC6: Added comment: PMID: 25376329
Two siblings from a consanguineous family with bilateral peripheral neuropathy and a homozygous splice variant in ERCC6 (c.1992+3A>G).

PMID: 25453614
Progressive neuropathy has been identified in multiple individuals with Cockayne Syndrome.; Changed rating: GREEN; Changed publications: 25376329, 25453614
Hereditary Neuropathy - complex v0.274 ASAH1 Sangavi Sivagnanasundram edited their review of gene: ASAH1: Added comment: PMID:27026573
Siblings from a consanguineous family with SMA phenotype and a homozygous mutation in ASAH1.

PMID: 22703880
5 individuals from 2 unrelated families with SMA and a homozygous mutation (Thr42Met) in ASAH1.

In vivo functional assay using Zebrafish model showed a loss in motor neuron axonal branching and increased apotheosis in the spinal cord suggesting that ASAH plays an integral role in motor-axonal branching and in the survival of spinal cord neurons.; Changed rating: GREEN; Changed publications: 27026573, 22703880; Changed phenotypes: Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950)
Hereditary Neuropathy - complex v0.274 SPAST Sangavi Sivagnanasundram edited their review of gene: SPAST: Added comment: Neuropathy is a feature in complex HSP which is caused by autosomal dominant mutations in SPAST or KIF5A.

PMID: 322442913; 22192498
3 unrelated individuals with HSP and polyneuropathy as a clinical feature however their WES remains undiagnosed.; Changed rating: GREEN; Changed publications: 322442913, 22192498, 26374131, 20301339
Hereditary Neuropathy - complex v0.274 HEXA Sangavi Sivagnanasundram changed review comment from: HEXA is associated with the clinical phenotype known as Tay-Sachs disease.
Evidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to confirm the presence of a HEXA genetic variant in either individual.; to: PMID: 3159334, 1838393: HEXA is associated with the clinical phenotype known as Tay-Sachs disease.
Evidence of sensory neuropathy was present in two unrelated individuals with tay Sachs disease however genetic testing wasn’t conducted to identify genetic pathogenesis.
Hereditary Neuropathy - complex v0.274 HEXA Sangavi Sivagnanasundram edited their review of gene: HEXA: Added comment: Established gene disease associated with >3 unrelated individuals with neuropathy as a clinical feature.
Mutations in HEXA gene cause juvenile gm2 gangliosidosis (jGM2) and Tay Sachs is a well established form of jGM2.

PMID: 17015493
One individual with variant in HEXA and diagnosis of Tay Sachs

PMID: 18642377
Multiple individuals diagnosed with late onset tay-Sachs and identified to have axonal polyneuropathy in 8 individuals.; Changed rating: GREEN; Changed publications: 17015493, 18642377, 3159334, 1838393
Hereditary Neuropathy - complex v0.274 IFRD1 Zornitza Stark Tag refuted tag was added to gene: IFRD1.
Hereditary Neuropathy - complex v0.274 PEX12 Bryony Thompson Marked gene: PEX12 as ready
Hereditary Neuropathy - complex v0.274 PEX12 Bryony Thompson Gene: pex12 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.274 PEX12 Bryony Thompson Publications for gene: PEX12 were set to 24627108
Hereditary Neuropathy - complex v0.273 PEX12 Bryony Thompson Classified gene: PEX12 as Green List (high evidence)
Hereditary Neuropathy - complex v0.273 PEX12 Bryony Thompson Gene: pex12 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.272 PEX12 Bryony Thompson Deleted their comment
Hereditary Neuropathy - complex v0.272 PEX12 Bryony Thompson edited their review of gene: PEX12: Added comment: Neuropathy as a feature of the conditon in 45% (9/14) families with an Egyptian founder variant ((c.1047_1049del p.(Gln349del)) and also in an additional proband.; Changed rating: GREEN; Changed publications: 24627108, 33123925
Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Marked gene: NIPA1 as ready
Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Classified gene: NIPA1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.272 NIPA1 Bryony Thompson Gene: nipa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.271 NIPA1 Bryony Thompson edited their review of gene: NIPA1: Added comment: Neuropathy is not a prominent feature of the complicated HSP sometimes reported associated with this gene. However, it has been reported in 6/110 (5.5%) of NIPA1-associated complicated HSP cases.; Changed rating: GREEN; Changed publications: 34863451
Hereditary Neuropathy - complex v0.271 NIPA1 Bryony Thompson Deleted their comment
Hereditary Neuropathy - complex v0.271 IFRD1 Bryony Thompson Marked gene: IFRD1 as ready
Hereditary Neuropathy - complex v0.271 IFRD1 Bryony Thompson Gene: ifrd1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.271 DCAF8 Bryony Thompson Marked gene: DCAF8 as ready
Hereditary Neuropathy - complex v0.271 DCAF8 Bryony Thompson Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.271 DCAF8 Bryony Thompson Publications for gene: DCAF8 were set to
Hereditary Neuropathy - complex v0.270 CCT5 Bryony Thompson Marked gene: CCT5 as ready
Hereditary Neuropathy - complex v0.270 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.270 CCT5 Bryony Thompson Publications for gene: CCT5 were set to
Hereditary Neuropathy - complex v0.269 CCT5 Bryony Thompson edited their review of gene: CCT5: Added comment: Now two families reported with two different missense variants (Leu224Val and His147Arg).; Changed publications: 16399879, 25124038, 25345891, 33076433, 37237456
Hereditary Neuropathy - complex v0.269 TYMP Bryony Thompson Marked gene: TYMP as ready
Hereditary Neuropathy - complex v0.269 TYMP Bryony Thompson Gene: tymp has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.269 PMM2 Bryony Thompson Marked gene: PMM2 as ready
Hereditary Neuropathy - complex v0.269 PMM2 Bryony Thompson Gene: pmm2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.269 PMM2 Bryony Thompson Publications for gene: PMM2 were set to
Hereditary Neuropathy - complex v0.268 PRNP Bryony Thompson Marked gene: PRNP as ready
Hereditary Neuropathy - complex v0.268 PRNP Bryony Thompson Gene: prnp has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.268 PRNP Bryony Thompson Phenotypes for gene: PRNP were changed from Prion diseases to Prion diseases; peripheral neuropathy; chronic diarrhea; dementia
Hereditary Neuropathy - complex v0.267 PRNP Bryony Thompson Publications for gene: PRNP were set to
Hereditary Neuropathy - complex v0.266 PRNP Bryony Thompson reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31953922, 31907995, 29928661, 27716661, 26926995, 24224623, 26768678; Phenotypes: peripheral neuropathy, chronic diarrhea, dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.266 PMM2 Sangavi Sivagnanasundram edited their review of gene: PMM2: Changed rating: GREEN
Hereditary Neuropathy - complex v0.266 GLA Bryony Thompson Marked gene: GLA as ready
Hereditary Neuropathy - complex v0.266 GLA Bryony Thompson Gene: gla has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.266 GLA Bryony Thompson Publications for gene: GLA were set to
Hereditary Neuropathy - complex v0.265 EXOSC8 Bryony Thompson Deleted their review
Hereditary Neuropathy - complex v0.265 EXOSC8 Bryony Thompson commented on gene: EXOSC8
Hereditary Neuropathy - complex v0.265 EXOSC8 Bryony Thompson Deleted their review
Hereditary Neuropathy - complex v0.265 DARS2 Bryony Thompson Marked gene: DARS2 as ready
Hereditary Neuropathy - complex v0.265 DARS2 Bryony Thompson Gene: dars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.265 SPAST Sangavi Sivagnanasundram reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: None; Publications: 20301339; Phenotypes: Spastic paraplegia 4, autosomal dominant 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.265 PMM2 Sangavi Sivagnanasundram reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: 20301507, 20301289; Phenotypes: Congenital disorder of glycosylation, type Ia (MIM#212065); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.265 HEXA Sangavi Sivagnanasundram reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: None; Publications: 3159334, 1838393; Phenotypes: Tay-Sachs disease MIM#272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.265 ASAH1 Sangavi Sivagnanasundram reviewed gene: ASAH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Farber lipogranulomatosis (MIM#228000), Spinal muscular atrophy with progressive myoclonic epilepsy (MIM#159950); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.265 XK Zornitza Stark Marked gene: XK as ready
Hereditary Neuropathy - complex v0.265 XK Zornitza Stark Gene: xk has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.265 XK Zornitza Stark Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease (MIM#300842)
Hereditary Neuropathy - complex v0.264 XK Zornitza Stark Publications for gene: XK were set to
Hereditary Neuropathy - complex v0.263 TWNK Zornitza Stark Marked gene: TWNK as ready
Hereditary Neuropathy - complex v0.263 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.263 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 to Perrault syndrome (MIM#616138); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286
Hereditary Neuropathy - complex v0.262 TWNK Zornitza Stark Publications for gene: TWNK were set to 25254289; 25355836; 27650058; 28178980
Hereditary Neuropathy - complex v0.261 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.261 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.260 TWNK Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35011763; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.260 TWNK Zornitza Stark Publications for gene: TWNK were set to
Hereditary Neuropathy - complex v0.259 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.258 TUBB3 Zornitza Stark Marked gene: TUBB3 as ready
Hereditary Neuropathy - complex v0.258 TUBB3 Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.258 TUBB3 Zornitza Stark Phenotypes for gene: TUBB3 were changed from Fibrosis of extraocular muscles, congenital, 3A; HMSN to Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Neuropathy
Hereditary Neuropathy - complex v0.257 TUBB3 Zornitza Stark Publications for gene: TUBB3 were set to
Hereditary Neuropathy - complex v0.256 TUBB3 Zornitza Stark reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34652576; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638), Neuropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.256 TTR Zornitza Stark Marked gene: TTR as ready
Hereditary Neuropathy - complex v0.256 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.256 TTR Zornitza Stark Phenotypes for gene: TTR were changed from Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN to Amyloidosis, hereditary, transthyretin-related MIM#105210; Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Hereditary Neuropathy - complex v0.255 TTR Zornitza Stark Publications for gene: TTR were set to
Hereditary Neuropathy - complex v0.254 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Hereditary Neuropathy - complex v0.254 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.254 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791; MIM#612073); ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Hereditary Neuropathy - complex v0.253 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Hereditary Neuropathy - complex v0.252 SUCLA2 Zornitza Stark Classified gene: SUCLA2 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.252 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.251 SUCLA2 Zornitza Stark reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35235001; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.251 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Hereditary Neuropathy - complex v0.251 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.251 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN to PCWH Syndrome (MIM#609136; MONDO:0012198); Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN
Hereditary Neuropathy - complex v0.250 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Hereditary Neuropathy - complex v0.249 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Hereditary Neuropathy - complex v0.249 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.249 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Hereditary Neuropathy - complex v0.248 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Hereditary Neuropathy - complex v0.247 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Hereditary Neuropathy - complex v0.247 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.247 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease to Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Hereditary Neuropathy - complex v0.246 SLC52A3 Zornitza Stark Publications for gene: SLC52A3 were set to
Hereditary Neuropathy - complex v0.245 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Hereditary Neuropathy - complex v0.245 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.245 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from Brown-Vialetto-Van Laere syndrome 2 to Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867)
Hereditary Neuropathy - complex v0.244 SLC52A2 Zornitza Stark Publications for gene: SLC52A2 were set to
Hereditary Neuropathy - complex v0.243 SCYL1 Zornitza Stark Marked gene: SCYL1 as ready
Hereditary Neuropathy - complex v0.243 SCYL1 Zornitza Stark Gene: scyl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.243 SCYL1 Zornitza Stark Phenotypes for gene: SCYL1 were changed from Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy to Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719); acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary Neuropathy - complex v0.242 SCYL1 Zornitza Stark Publications for gene: SCYL1 were set to
Hereditary Neuropathy - complex v0.241 SACS Zornitza Stark Marked gene: SACS as ready
Hereditary Neuropathy - complex v0.241 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.241 SACS Zornitza Stark Phenotypes for gene: SACS were changed from Spastic ataxia Charlevoix-Saguenay type; HMSN to Charlevoix-Saguenay spastic ataxia (MONDO:0010041; MIM#270550)
Hereditary Neuropathy - complex v0.240 SACS Zornitza Stark Publications for gene: SACS were set to
Hereditary Neuropathy - complex v0.239 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Hereditary Neuropathy - complex v0.239 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Hereditary Neuropathy - complex v0.239 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.239 PTRH2 Zornitza Stark Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy to Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary Neuropathy - complex v0.238 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to
Hereditary Neuropathy - complex v0.237 XK Sangavi Sivagnanasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11761473; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy - complex v0.237 TWNK Sangavi Sivagnanasundram reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25254289, 25355836, 27650058, 28178980; Phenotypes: Perrault syndrome (MIM#616138); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.237 TUBB3 Sangavi Sivagnanasundram reviewed gene: TUBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20074521; Phenotypes: Fibrosis of extraocular muscles, congenital, 3A (MIM#600638); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy - complex v0.237 TTR Sangavi Sivagnanasundram reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301373, 8071954, 19180884, 24101130; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.237 SUCLA2 Sangavi Sivagnanasundram reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: 20301762; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MONDO:0012791, MIM#612073); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.237 SOX10 Sangavi Sivagnanasundram reviewed gene: SOX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 15004559; Phenotypes: PCWH Syndrome (MIM#609136, MONDO:0012198); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy - complex v0.237 SNAP29 Sangavi Sivagnanasundram reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: None; Publications: 33977139; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.237 SLC52A3 Sangavi Sivagnanasundram reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20206331; Phenotypes: Brown-Vialetto-Van Laere syndrome 1 (MIM#211530); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.237 SLC52A2 Sangavi Sivagnanasundram reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740598, 24253200; Phenotypes: Brown-Vialetto-van Laere syndrome 2 (BVVLS2) (MONDO:0013867); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.237 SCYL1 Sangavi Sivagnanasundram reviewed gene: SCYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581903, 30531813; Phenotypes: Spinocerebellar ataxia, autosomal recessive 21 (MIM#616719), acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (MONDO:0014744); Mode of inheritance: None
Hereditary Neuropathy - complex v0.237 SACS Sangavi Sivagnanasundram reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301432, 20876471; Phenotypes: Charlevoix-Saguenay spastic ataxia (MONDO:0010041, MIM#270550); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.237 PTRH2 Sangavi Sivagnanasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25574476, 27129381, 28328138; Phenotypes: Infantile multisystem neurologic, endocrine, and pancreatic disease (IMNPED) (MIM#616263); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.237 NGLY1 Zornitza Stark Marked gene: NGLY1 as ready
Hereditary Neuropathy - complex v0.237 NGLY1 Zornitza Stark Gene: ngly1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.237 NGLY1 Zornitza Stark Phenotypes for gene: NGLY1 were changed from Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy to Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Hereditary Neuropathy - complex v0.236 NGLY1 Zornitza Stark Publications for gene: NGLY1 were set to
Hereditary Neuropathy - complex v0.235 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Hereditary Neuropathy - complex v0.235 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.235 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN to Optic atrophy plus syndrome (MIM#125250)
Hereditary Neuropathy - complex v0.234 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Hereditary Neuropathy - complex v0.233 PDYN Zornitza Stark Marked gene: PDYN as ready
Hereditary Neuropathy - complex v0.233 PDYN Zornitza Stark Gene: pdyn has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.233 PDYN Zornitza Stark Phenotypes for gene: PDYN were changed from Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23 to Spinocerebellar ataxia 23 (MIM#610245); Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23
Hereditary Neuropathy - complex v0.232 PDYN Zornitza Stark Publications for gene: PDYN were set to
Hereditary Neuropathy - complex v0.231 PDYN Zornitza Stark reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.231 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Hereditary Neuropathy - complex v0.231 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.231 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Hereditary Neuropathy - complex v0.230 PEX7 Zornitza Stark Classified gene: PEX7 as Red List (low evidence)
Hereditary Neuropathy - complex v0.230 PEX7 Zornitza Stark Gene: pex7 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.229 PHYH Zornitza Stark Marked gene: PHYH as ready
Hereditary Neuropathy - complex v0.229 PHYH Zornitza Stark Gene: phyh has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.229 PHYH Zornitza Stark Phenotypes for gene: PHYH were changed from Refsum disease; Phytanic acid storage disease to Refsum Disease MIM#266500
Hereditary Neuropathy - complex v0.228 PHYH Zornitza Stark Publications for gene: PHYH were set to
Hereditary Neuropathy - complex v0.227 PHYH Zornitza Stark reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.227 PLA2G6 Zornitza Stark Marked gene: PLA2G6 as ready
Hereditary Neuropathy - complex v0.227 PLA2G6 Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.227 PLA2G6 Zornitza Stark Phenotypes for gene: PLA2G6 were changed from Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI to Infantile neuroaxonal dystrophy 1 (MIM#256600); Neurodegeneration with brain iron accumulation 2B (MIM#610217)
Hereditary Neuropathy - complex v0.226 PLA2G6 Zornitza Stark Publications for gene: PLA2G6 were set to
Hereditary Neuropathy - complex v0.225 PLA2G6 Zornitza Stark reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29859652; Phenotypes: Infantile neuroaxonal dystrophy 1 (MIM#256600), Neurodegeneration with brain iron accumulation 2B (MIM#610217), Parkinson disease 14, autosomal recessive (MIM#612953); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.225 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Hereditary Neuropathy - complex v0.225 PLP1 Zornitza Stark Gene: plp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.225 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN to Pelizaeus-Merzbacher disease (MIM#312080)
Hereditary Neuropathy - complex v0.224 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Hereditary Neuropathy - complex v0.223 PLP1 Zornitza Stark Classified gene: PLP1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.223 PLP1 Zornitza Stark Gene: plp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.222 PNKP Zornitza Stark Marked gene: PNKP as ready
Hereditary Neuropathy - complex v0.222 PNKP Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.222 PNKP Zornitza Stark Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN to Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589); Ataxia-oculomotor apraxia 4 (MIM#616267)
Hereditary Neuropathy - complex v0.221 PNKP Zornitza Stark Publications for gene: PNKP were set to
Hereditary Neuropathy - complex v0.220 PNPLA6 Zornitza Stark Marked gene: PNPLA6 as ready
Hereditary Neuropathy - complex v0.220 PNPLA6 Zornitza Stark Gene: pnpla6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.220 PNPLA6 Zornitza Stark Phenotypes for gene: PNPLA6 were changed from progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia to Laurence-Moon Syndrome (LMS) MIM#245800; Spastic Paraplegia Type 39 MIM#612020
Hereditary Neuropathy - complex v0.219 PNPLA6 Zornitza Stark Publications for gene: PNPLA6 were set to
Hereditary Neuropathy - complex v0.218 PRNP Sangavi Sivagnanasundram changed review comment from: Neuropathy not an established feature of CAA - only one reported family.
PMID: 24224623
Multigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.; to: Neuropathy not an established feature of PRNP-related CAA - only one reported family.
PMID: 24224623
Multigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.
Hereditary Neuropathy - complex v0.218 POLG Zornitza Stark Marked gene: POLG as ready
Hereditary Neuropathy - complex v0.218 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.218 POLG Zornitza Stark Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
Hereditary Neuropathy - complex v0.217 POLG Zornitza Stark Publications for gene: POLG were set to
Hereditary Neuropathy - complex v0.216 PRNP Sangavi Sivagnanasundram reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: 24224623; Phenotypes: Inherited prion disease, Cerebral amyloid angiopathy, PRNP-related (MIM#137440); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy - complex v0.216 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 POLG Sangavi Sivagnanasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 PNPLA6 Sangavi Sivagnanasundram reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299038, 18313024; Phenotypes: Laurence-Moon Syndrome (LMS) MIM#245800, Spastic Paraplegia Type 39 MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 PNKP Sangavi Sivagnanasundram reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30039206, 27066567, 25728773; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589), Ataxia-oculomotor apraxia 4 (MIM#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 PLP1 Sangavi Sivagnanasundram reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301361, 11872612; Phenotypes: Pelizaeus-Merzbacher disease (MIM#312080); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy - complex v0.215 PLA2G6 Sangavi Sivagnanasundram reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1 (MIM#256600), Neurodegeneration with brain iron accumulation 2B (MIM#610217), Parkinson disease 14, autosomal recessive (MIM#612953); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 PHYH Sangavi Sivagnanasundram reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: None; Publications: 2433405, 20301527; Phenotypes: Adult Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 PEX7 Sangavi Sivagnanasundram reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: 20301447, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B (MIM#614879); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 PDYN Sangavi Sivagnanasundram reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: None; Publications: 21035104; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy - complex v0.215 OPA1 Sangavi Sivagnanasundram reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240368, 18065439, 20157015, 21112924; Phenotypes: Optic atrophy plus syndrome (MIM#125250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy - complex v0.215 NGLY1 Sangavi Sivagnanasundram reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581936, 27388694, 29419975; Phenotypes: Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 SURF1 Sangavi Sivagnanasundram reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Charcot-Marie-Tooth disease, type 4K (MIM#616684, MONDO:0014733); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 TECPR2 Sangavi Sivagnanasundram reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36137062, 26542466, 23176824; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (HSAN) (MIM#615031); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 TYMP Sangavi Sivagnanasundram reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: Other; Publications: 20301358, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.215 MTTP Zornitza Stark Marked gene: MTTP as ready
Hereditary Neuropathy - complex v0.215 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.215 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy to Abetalipoproteinemia (MIM#200100); Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy
Hereditary Neuropathy - complex v0.214 MTTP Zornitza Stark Publications for gene: MTTP were set to
Hereditary Neuropathy - complex v0.213 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33994405; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.213 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Hereditary Neuropathy - complex v0.213 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.213 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Hereditary Neuropathy - complex v0.212 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Hereditary Neuropathy - complex v0.212 ATM Zornitza Stark Marked gene: ATM as ready
Hereditary Neuropathy - complex v0.212 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.212 ATM Zornitza Stark Phenotypes for gene: ATM were changed from Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome to Ataxia-telangiectasia, MIM#208900; Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Hereditary Neuropathy - complex v0.211 ATM Zornitza Stark Publications for gene: ATM were set to
Hereditary Neuropathy - complex v0.210 ATM Zornitza Stark Classified gene: ATM as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.210 ATM Zornitza Stark Gene: atm has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.209 ATM Zornitza Stark reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: None; Publications: 32259893; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.209 AP1S1 Zornitza Stark Marked gene: AP1S1 as ready
Hereditary Neuropathy - complex v0.209 AP1S1 Zornitza Stark Gene: ap1s1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.209 AP1S1 Zornitza Stark Phenotypes for gene: AP1S1 were changed from Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma to MEDNIK Syndrome (MONDO:0012251, MIM#609313); Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary Neuropathy - complex v0.208 AP1S1 Zornitza Stark Publications for gene: AP1S1 were set to
Hereditary Neuropathy - complex v0.207 AP1S1 Zornitza Stark reviewed gene: AP1S1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30244301; Phenotypes: MEDNIK syndrome (MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.207 ABCA1 Zornitza Stark Marked gene: ABCA1 as ready
Hereditary Neuropathy - complex v0.207 ABCA1 Zornitza Stark Gene: abca1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.207 ABCA1 Zornitza Stark Phenotypes for gene: ABCA1 were changed from HMSN; Tangier disease to Tangier Disease (MONDO:0008783; MIM#205400)
Hereditary Neuropathy - complex v0.206 ABCA1 Zornitza Stark Publications for gene: ABCA1 were set to
Hereditary Neuropathy - complex v0.205 ABCA1 Zornitza Stark changed review comment from: Neuropathy is a key feature of this metabolic disorder.; to: Neuropathy is a feature of this metabolic disorder. 54 individuals with neuropathy summarised in PMID 29582519.
Hereditary Neuropathy - complex v0.205 ABCA1 Zornitza Stark edited their review of gene: ABCA1: Changed publications: 29582519
Hereditary Neuropathy - complex v0.205 ABCA1 Zornitza Stark reviewed gene: ABCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 MTTP Sangavi Sivagnanasundram reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: None; Publications: 30358967; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 HEXB Sangavi Sivagnanasundram reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: None; Publications: 17251047, 14722612, 35420740; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms (MIM#268800); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 GLA Sangavi Sivagnanasundram changed review comment from: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.
Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age.; to: Systemic disease manifesting a range of phenotypes including small-fibre neuropathy.
Neuropathy is not a specific feature of Fabry Disease however is shown to progress with age.
Variants in GLA have been reported in individuals with neuropathy pain.
Hereditary Neuropathy - complex v0.205 GLA Sangavi Sivagnanasundram reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: None; Publications: 19318041, 22497776; Phenotypes: Fabry Disease (MIM#301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary Neuropathy - complex v0.205 C19orf12 Sangavi Sivagnanasundram reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21981780; Phenotypes: Neurodegeneration with brain iron accumulation 4 (NBIA) (MONDO:0013674); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 C12orf65 Sangavi Sivagnanasundram reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23188110, 3479531, 24198383; Phenotypes: Spastic paraplegia 55 (MIM#615035); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 ATM Sangavi Sivagnanasundram reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: 20301790; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 AP1S1 Sangavi Sivagnanasundram reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23423674; Phenotypes: MEDNIK Syndrome (MONDO:0012251, MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 ABCA1 Sangavi Sivagnanasundram reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 4165386, 31751110; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.205 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Hereditary Neuropathy - complex v0.205 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.205 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency; HMSN to Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170
Hereditary Neuropathy - complex v0.204 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Hereditary Neuropathy - complex v0.203 PDHA1 Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36693417, 33661577; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy - complex v0.203 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Hereditary Neuropathy - complex v0.203 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.203 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to hereditary sensory and autonomic neuropathy type 4 MONDO:0009746
Hereditary Neuropathy - complex v0.202 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Hereditary Neuropathy - complex v0.201 PDHA1 Sangavi Sivagnanasundram reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy - complex v0.201 NTRK1 Sangavi Sivagnanasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301726, 11310631; Phenotypes: hereditary sensory and autonomic neuropathy type 4 MONDO:0009746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.201 MFF Zornitza Stark Marked gene: MFF as ready
Hereditary Neuropathy - complex v0.201 MFF Zornitza Stark Gene: mff has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.201 MFF Zornitza Stark Phenotypes for gene: MFF were changed from Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus) to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086
Hereditary Neuropathy - complex v0.200 MFF Zornitza Stark Publications for gene: MFF were set to
Hereditary Neuropathy - complex v0.199 MFF Zornitza Stark Classified gene: MFF as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.199 MFF Zornitza Stark Gene: mff has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.198 LYST Zornitza Stark Marked gene: LYST as ready
Hereditary Neuropathy - complex v0.198 LYST Zornitza Stark Gene: lyst has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.198 LYST Zornitza Stark Phenotypes for gene: LYST were changed from Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500 to Chediak-Higashi syndrome MIM#214500; MONDO:0008963
Hereditary Neuropathy - complex v0.197 LYST Zornitza Stark Publications for gene: LYST were set to
Hereditary Neuropathy - complex v0.196 KARS Zornitza Stark Marked gene: KARS as ready
Hereditary Neuropathy - complex v0.196 KARS Zornitza Stark Gene: kars has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.196 KARS Zornitza Stark Phenotypes for gene: KARS were changed from HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 to Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641; MONDO:0013338)
Hereditary Neuropathy - complex v0.195 KARS Zornitza Stark Publications for gene: KARS were set to
Hereditary Neuropathy - complex v0.194 KARS Zornitza Stark Classified gene: KARS as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.194 KARS Zornitza Stark Gene: kars has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.193 HMBS Zornitza Stark Marked gene: HMBS as ready
Hereditary Neuropathy - complex v0.193 HMBS Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.193 HMBS Zornitza Stark Phenotypes for gene: HMBS were changed from Acute intermittent porphyria; dHMN/dSMA to Porphyria, acute intermittent MIM#176000; MONDO:0008294
Hereditary Neuropathy - complex v0.192 HMBS Zornitza Stark Publications for gene: HMBS were set to
Hereditary Neuropathy - complex v0.191 HMBS Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31205461; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.191 HADHB Zornitza Stark Marked gene: HADHB as ready
Hereditary Neuropathy - complex v0.191 HADHB Zornitza Stark Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.191 HADHB Zornitza Stark Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015; HMSN to Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300
Hereditary Neuropathy - complex v0.190 HADHB Zornitza Stark Publications for gene: HADHB were set to
Hereditary Neuropathy - complex v0.189 HADHB Zornitza Stark reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37388542; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.189 HADHB Zornitza Stark Classified gene: HADHB as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.189 HADHB Zornitza Stark Gene: hadhb has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.188 HADHA Zornitza Stark Marked gene: HADHA as ready
Hereditary Neuropathy - complex v0.188 HADHA Zornitza Stark Gene: hadha has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.188 HADHA Zornitza Stark Phenotypes for gene: HADHA were changed from Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency MIM#609015
Hereditary Neuropathy - complex v0.187 HADHA Zornitza Stark Publications for gene: HADHA were set to
Hereditary Neuropathy - complex v0.186 GSN Zornitza Stark Marked gene: GSN as ready
Hereditary Neuropathy - complex v0.186 GSN Zornitza Stark Gene: gsn has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.186 GSN Zornitza Stark Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type; HMSN to Amyloidosis, Finnish type MIM#105120
Hereditary Neuropathy - complex v0.185 GSN Zornitza Stark Publications for gene: GSN were set to
Hereditary Neuropathy - complex v0.184 GSN Zornitza Stark Mode of inheritance for gene: GSN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.183 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Hereditary Neuropathy - complex v0.183 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.183 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI to Polyglucosan body disease, adult form MIM#263570; Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI
Hereditary Neuropathy - complex v0.182 GBE1 Zornitza Stark Publications for gene: GBE1 were set to
Hereditary Neuropathy - complex v0.181 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Hereditary Neuropathy - complex v0.181 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.181 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Hereditary Neuropathy - complex v0.180 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Hereditary Neuropathy - complex v0.180 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.180 EXOSC3 Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.180 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.179 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Hereditary Neuropathy - complex v0.179 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.179 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type A MIM#216400
Hereditary Neuropathy - complex v0.178 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.178 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Hereditary Neuropathy - complex v0.178 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.178 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type B MIM#133540
Hereditary Neuropathy - complex v0.177 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Hereditary Neuropathy - complex v0.176 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25453614; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.176 GALC Zornitza Stark Marked gene: GALC as ready
Hereditary Neuropathy - complex v0.176 GALC Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.176 GALC Zornitza Stark Phenotypes for gene: GALC were changed from Galactosylceramide beta-galactosidase deficiency; HMSN to Krabbe Disease MIM#245200
Hereditary Neuropathy - complex v0.175 GALC Zornitza Stark Publications for gene: GALC were set to
Hereditary Neuropathy - complex v0.174 GALC Zornitza Stark Classified gene: GALC as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.174 GALC Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.173 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Hereditary Neuropathy - complex v0.173 FAM126A Zornitza Stark Added comment: Comment when marking as ready: Peripheral and central involvement reported.
Hereditary Neuropathy - complex v0.173 FAM126A Zornitza Stark Gene: fam126a has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.173 FAM126A Zornitza Stark Classified gene: FAM126A as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.173 FAM126A Zornitza Stark Gene: fam126a has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.172 FAM126A Zornitza Stark Classified gene: FAM126A as Red List (low evidence)
Hereditary Neuropathy - complex v0.172 FAM126A Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.171 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Hereditary Neuropathy - complex v0.171 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.171 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from HMSN; Spastic paraplegia 15 to Spastic paraplegia 15 MIM#270700
Hereditary Neuropathy - complex v0.170 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Hereditary Neuropathy - complex v0.169 MFF Sangavi Sivagnanasundram reviewed gene: MFF: Rating: RED; Mode of pathogenicity: None; Publications: 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.169 LYST Sangavi Sivagnanasundram reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 24521565, 15790783, 20301751; Phenotypes: Chediak-Higashi syndrome MIM#214500, MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.169 KARS Sangavi Sivagnanasundram reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20920668; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641, MONDO:0013338); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.169 HMBS Sangavi Sivagnanasundram reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301372, 8563760; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy - complex v0.169 HADHB Sangavi Sivagnanasundram reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: None; Publications: 36063482, 24664533; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.169 HADHA Sangavi Sivagnanasundram reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 8871579, 23868323, 33744096, 12838198, 36063482; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.169 GSN Sangavi Sivagnanasundram reviewed gene: GSN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8684801, 228009, 3513049; Phenotypes: Amyloidosis, Finnish type MIM#105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.169 GBE1 Sangavi Sivagnanasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23034915, 1763891, 8494336, 20301758; Phenotypes: Polyglucosan body disease, adult form MIM#263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.169 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Hereditary Neuropathy - complex v0.169 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.169 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192
Hereditary Neuropathy - complex v0.168 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to 25466870
Hereditary Neuropathy - complex v0.167 DDHD1 Zornitza Stark Marked gene: DDHD1 as ready
Hereditary Neuropathy - complex v0.167 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.167 DDHD1 Zornitza Stark Classified gene: DDHD1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.167 DDHD1 Zornitza Stark Gene: ddhd1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.166 GBA2 Sangavi Sivagnanasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23332917, 29524657; Phenotypes: Spastic paraplegia 46 MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 EXOSC3 Sangavi Sivagnanasundram reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25144110, 22544365; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM#614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 ERCC6 Sangavi Sivagnanasundram edited their review of gene: ERCC6: Changed rating: RED
Hereditary Neuropathy - complex v0.166 ERCC6 Sangavi Sivagnanasundram changed review comment from: Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome.

No reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.; to: No established gene-disease association

Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome.

No reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.
Hereditary Neuropathy - complex v0.166 ERCC8 Sangavi Sivagnanasundram reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: 4320535; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 ERCC6 Sangavi Sivagnanasundram edited their review of gene: ERCC6: Changed rating: AMBER
Hereditary Neuropathy - complex v0.166 ERCC6 Sangavi Sivagnanasundram reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 GALC Sangavi Sivagnanasundram reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301416, 21070211; Phenotypes: Krabbe Disease MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 FAM126A Sangavi Sivagnanasundram reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 ZFYVE26 Sangavi Sivagnanasundram reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661097, 19438933; Phenotypes: Spastic paraplegia 15 MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 DNAJC3 Sangavi Sivagnanasundram reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466870, 32738013, 34654017; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 DDHD1 Sangavi Sivagnanasundram reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 DARS2 Sangavi Sivagnanasundram reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20506600, 19592391, 33574740; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 CLP1 Sangavi Sivagnanasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 24766810; Phenotypes: Pontocerebellar hypoplasia, type 10 (MIM#615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 ATAD3A Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic.
The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.
Hereditary Neuropathy - complex v0.166 ATAD3A Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic.
The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for bothe LoF and GoF.
Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.

Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A

PMID: 27640307
5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy.

Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic.
The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative.

AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.
Hereditary Neuropathy - complex v0.166 ATAD3A Sangavi Sivagnanasundram reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27640307; Phenotypes: Harel-Yoon Syndrome (MIM#6173183); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.166 APTX Zornitza Stark Marked gene: APTX as ready
Hereditary Neuropathy - complex v0.166 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.166 APTX Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920)
Hereditary Neuropathy - complex v0.165 APTX Zornitza Stark Publications for gene: APTX were set to
Hereditary Neuropathy - complex v0.164 B4GALNT1 Zornitza Stark Marked gene: B4GALNT1 as ready
Hereditary Neuropathy - complex v0.164 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.164 B4GALNT1 Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy to Spastic paraplegia 26, autosomal recessive (MIM#609195; MONDO:0012213)
Hereditary Neuropathy - complex v0.163 B4GALNT1 Zornitza Stark Publications for gene: B4GALNT1 were set to
Hereditary Neuropathy - complex v0.162 B4GALNT1 Zornitza Stark Classified gene: B4GALNT1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.162 B4GALNT1 Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.161 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Hereditary Neuropathy - complex v0.161 BAG3 Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.161 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN to Myopathy, myofibrillar, 6 (MIM#612954; MONDO:0013061)
Hereditary Neuropathy - complex v0.160 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Hereditary Neuropathy - complex v0.159 BAG3 Zornitza Stark Classified gene: BAG3 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.159 BAG3 Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.158 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Hereditary Neuropathy - complex v0.158 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.158 CNTNAP1 Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049; MIM#618186)
Hereditary Neuropathy - complex v0.157 CNTNAP1 Zornitza Stark Publications for gene: CNTNAP1 were set to
Hereditary Neuropathy - complex v0.156 COX10 Zornitza Stark Marked gene: COX10 as ready
Hereditary Neuropathy - complex v0.156 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.156 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN to Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046)
Hereditary Neuropathy - complex v0.155 COX10 Zornitza Stark Publications for gene: COX10 were set to
Hereditary Neuropathy - complex v0.154 COX10 Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.154 COX10 Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.153 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Hereditary Neuropathy - complex v0.153 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.153 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN to Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168)
Hereditary Neuropathy - complex v0.152 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to
Hereditary Neuropathy - complex v0.151 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Tag founder tag was added to gene: CTDP1.
Hereditary Neuropathy - complex v0.151 CTDP1 Zornitza Stark reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.151 CYP2U1 Zornitza Stark Marked gene: CYP2U1 as ready
Hereditary Neuropathy - complex v0.151 CYP2U1 Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.151 CYP2U1 Zornitza Stark Phenotypes for gene: CYP2U1 were changed from Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy to Spastic paraplegia 56, autosomal recessive, MIM#615030
Hereditary Neuropathy - complex v0.150 CYP2U1 Zornitza Stark Publications for gene: CYP2U1 were set to
Hereditary Neuropathy - complex v0.149 CYP2U1 Sangavi Sivagnanasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.149 CTDP1 Sangavi Sivagnanasundram reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301787; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.149 COX10 Sangavi Sivagnanasundram reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.149 CNTNAP1 Sangavi Sivagnanasundram reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29511323, 27881385; Phenotypes: Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049, MIM#618186); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.149 BAG3 Sangavi Sivagnanasundram reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 19085932; Phenotypes: Myopathy, myofibrillar, 6 (MIM#612954, MONDO:0013061); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.149 B4GALNT1 Sangavi Sivagnanasundram edited their review of gene: B4GALNT1: Changed rating: AMBER
Hereditary Neuropathy - complex v0.149 B4GALNT1 Sangavi Sivagnanasundram changed review comment from: Variable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes. (PMID: 20301682)

PMID: 23746551
5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability.
All affected individuals in the families had homozygous mutations in B4GALNT1; to: Neuropathy is not a prominent feature in individuals

Variable age of onset (typically during juvenile aged). Mutations in B4GALNT1 are known to be a rarer and more complicated form of SPG compared to other genes. (PMID: 20301682)

PMID: 23746551
5 unrelated families with gait abnormalities due to lower limb spasticity, hyperreflexia, extensor plantar responses, muscle weakness and atrophy, and mild to moderate intellectual disability.
All affected individuals in the families had homozygous mutations in B4GALNT1
Hereditary Neuropathy - complex v0.149 B4GALNT1 Sangavi Sivagnanasundram edited their review of gene: B4GALNT1: Changed rating: RED
Hereditary Neuropathy - complex v0.149 B4GALNT1 Sangavi Sivagnanasundram reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23746551; Phenotypes: Spastic paraplegia 26, autosomal recessive (MIM#609195, MONDO:0012213); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.149 APTX Sangavi Sivagnanasundram reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.149 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Hereditary Neuropathy - complex v0.149 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.149 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance to Adrenomyeloneuropathy, adult (MIM#300100); Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance
Hereditary Neuropathy - complex v0.148 ABCD1 Zornitza Stark Publications for gene: ABCD1 were set to
Hereditary Neuropathy - complex v0.147 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Hereditary Neuropathy - complex v0.147 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.147 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia to Spastic ataxia 5, autosomal recessive, MIM# 614487, MONDO:0013776; Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
Hereditary Neuropathy - complex v0.146 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Hereditary Neuropathy - complex v0.145 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.144 AFG3L2 Zornitza Stark reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.144 AMACR Zornitza Stark Marked gene: AMACR as ready
Hereditary Neuropathy - complex v0.144 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.144 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids to Alpha-methylacyl-CoA racemase deficiency (MIM#614307); Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
Hereditary Neuropathy - complex v0.143 AMACR Zornitza Stark Publications for gene: AMACR were set to
Hereditary Neuropathy - complex v0.142 AMACR Sangavi Sivagnanasundram reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 36108118, 10655068, 20821052, 18032455; Phenotypes: Alpha-methylacyl-CoA racemase deficiency (MIM#614307); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.142 AFG3L2 Sangavi Sivagnanasundram reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22022284, 25401298; Phenotypes: Spastic Ataxia 5 (MIM#614487, MONDO:0013776); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.142 ABCD1 Sangavi Sivagnanasundram reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301491; Phenotypes: Adrenomyeloneuropathy, adult (MIM#300100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy - complex v0.142 COQ7 Zornitza Stark Publications for gene: COQ7 were set to PMID: 36454683
Hereditary Neuropathy - complex v0.141 COQ7 Zornitza Stark Classified gene: COQ7 as Green List (high evidence)
Hereditary Neuropathy - complex v0.141 COQ7 Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.140 COQ7 Chern Lim reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36758993, 36759155; Phenotypes: Distal hereditary motor neuropathy (MONDO#0018894), COQ7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Neuropathy - complex v0.140 COQ7 Zornitza Stark Marked gene: COQ7 as ready
Hereditary Neuropathy - complex v0.140 COQ7 Zornitza Stark Gene: coq7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.140 COQ7 Elena Savva Classified gene: COQ7 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.140 COQ7 Elena Savva Gene: coq7 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.139 COQ7 Elena Savva gene: COQ7 was added
gene: COQ7 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ7 were set to PMID: 36454683
Phenotypes for gene: COQ7 were set to Distal hereditary motor neuropathy, COQ7-related (MONDO#0018894)
Review for gene: COQ7 was set to AMBER
Added comment: PMID: 36454683 - 1 family (3 sibs) with a homozygous start-loss. Functional studies showed 85% loss of protein of the main isoform 1 (NM_016138) in patient fibroblasts and accumulation of protein substrate. Patients had a motor neuropathy
Sources: Literature
Hereditary Neuropathy - complex v0.138 Zornitza Stark HPO terms changed from to Peripheral neuropathy, HP:0009830
List of related panels changed from to Peripheral neuropathy; HP:0009830
Hereditary Neuropathy - complex v0.137 EMILIN1 Karina Sandoval changed review comment from: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures; to: Bi-allelic EMILIN1 loss-of-function variants causative for an entity combining cutis laxa, arterial tortuosity, aneurysm formation, and bone fragility, and transient osteopenia

4 families - Variants segregated in the all families, carriers
Fam 1. 2 affected, homozygous c.831dup consanguineous
Fam 2. 2 affected homozygous c.151del consanguineous
Fam 3. 1 affected chet
Fam 4. 1 affected homozygous c.1606C>T

Mouse models
All affected individuals presented with generalized arterial tortuosity and fractures
Hereditary Neuropathy - complex v0.137 EMILIN1 Karina Sandoval reviewed gene: EMILIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36351433; Phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.137 EMILIN1 Zornitza Stark Phenotypes for gene: EMILIN1 were changed from Peripheral neuropathy; aortic aneurysm to Neuronopathy, distal hereditary motor, type X, MIM# 620080; Peripheral neuropathy; aortic aneurysm
Hereditary Neuropathy - complex v0.136 EMILIN1 Zornitza Stark edited their review of gene: EMILIN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type X, MIM# 620080, Peripheral neuropathy, aortic aneurysm
Hereditary Neuropathy - complex v0.136 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Hereditary Neuropathy - complex v0.136 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Hereditary Neuropathy - complex v0.135 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Charcot-Marie-Tooth disease, axonal, type 2II , MIM#620068
Hereditary Neuropathy - complex v0.135 MTTP Zornitza Stark Tag treatable tag was added to gene: MTTP.
Hereditary Neuropathy - complex v0.135 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Hereditary Neuropathy - complex v0.135 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Hereditary Neuropathy - complex v0.135 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Hereditary Neuropathy - complex v0.135 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Hereditary Neuropathy - complex v0.135 ARSA Zornitza Stark Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy to Metachromatic leukodystrophy, MIM# 250100; Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary Neuropathy - complex v0.134 ARSA Zornitza Stark reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.134 ARSA Zornitza Stark Marked gene: ARSA as ready
Hereditary Neuropathy - complex v0.134 ARSA Zornitza Stark Gene: arsa has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.134 AGXT Zornitza Stark Tag clinical trial tag was added to gene: AGXT.
Hereditary Neuropathy - complex v0.134 AGXT Zornitza Stark Tag treatable tag was added to gene: AGXT.
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Classified gene: UCHL1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.134 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.133 UCHL1 Zornitza Stark gene: UCHL1 was added
gene: UCHL1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: UCHL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UCHL1 were set to 35986737
Phenotypes for gene: UCHL1 were set to Neurodegenerative disease, MONDO:0005559, UCHL1-related
Review for gene: UCHL1 was set to GREEN
Added comment: PMID 35986737: 34 individuals from 18 unrelated families, carrying 13 heterozygous loss-of-function variants (15 families) and an inframe insertion (3 families). Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17).
Sources: Literature
Hereditary Neuropathy - complex v0.132 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Hereditary Neuropathy - complex v0.132 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.132 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN to Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369
Hereditary Neuropathy - complex v0.131 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Hereditary Neuropathy - complex v0.130 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.130 MYH14 Elena Savva edited their review of gene: MYH14: Added comment: PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss.

PMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L.
- Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss (PMID:31231018;27875632). These multigenerational families were Caucasian or not described, with no de novo evidence shown. Authors speculate recurrence due to the broad geographical location where families have been described.


Single recurring missense appears to be responsible for this phenotype; Changed rating: GREEN; Changed publications: PMID: 21480433, 35274842, 31231018, 27875632
Hereditary Neuropathy - complex v0.130 MYH14 Elena Savva reviewed gene: MYH14: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 21480433, 35274842; Phenotypes: ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary Neuropathy - complex v0.130 RFC1 Zornitza Stark Mode of pathogenicity for gene: RFC1 was changed from None to Other
Hereditary Neuropathy - complex v0.129 RFC1 Zornitza Stark Classified gene: RFC1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.129 RFC1 Zornitza Stark Gene: rfc1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.128 RFC1 Ain Roesley reviewed gene: RFC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 35883251; Phenotypes: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary Neuropathy - complex v0.128 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 to Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903
Hereditary Neuropathy - complex v0.127 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903
Hereditary Neuropathy - complex v0.127 GAN Zornitza Stark Marked gene: GAN as ready
Hereditary Neuropathy - complex v0.127 GAN Zornitza Stark Gene: gan has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.127 GAN Zornitza Stark Phenotypes for gene: GAN were changed from HMSN; Giant axonal neuropathy-1 to Giant axonal neuropathy-1, MIM# 256850
Hereditary Neuropathy - complex v0.126 GAN Zornitza Stark Publications for gene: GAN were set to
Hereditary Neuropathy - complex v0.125 GAN Chirag Patel reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.125 ETFDH Bryony Thompson Marked gene: ETFDH as ready
Hereditary Neuropathy - complex v0.125 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.125 ETFDH Bryony Thompson Classified gene: ETFDH as Green List (high evidence)
Hereditary Neuropathy - complex v0.125 ETFDH Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.124 ETFDH Bryony Thompson gene: ETFDH was added
gene: ETFDH was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFDH were set to 32608139; 35309592; 26821934
Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy
Review for gene: ETFDH was set to GREEN
gene: ETFDH was marked as current diagnostic
Added comment: Sensory neuropathy can be a feature of the condition. >10 cases with biallelic variants has been reported with sensory neuropathy confirmed with nerve conduction studies.
Sources: Literature
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Hereditary Neuropathy - complex v0.122 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267
Hereditary Neuropathy - complex v0.121 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.121 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.120 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.120 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy to Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742
Hereditary Neuropathy - complex v0.119 POLR3B Zornitza Stark edited their review of gene: POLR3B: Changed rating: GREEN; Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Hereditary Neuropathy - complex v0.119 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.118 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 35013551
Phenotypes for gene: SLC5A6 were set to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Review for gene: SLC5A6 was set to GREEN
Added comment: Multi-system potentially treatable disorder.

Five individuals from three families reported with motor neuropathies.
Sources: Literature
Hereditary Neuropathy - complex v0.117 NIID Bryony Thompson Marked STR: NIID as ready
Hereditary Neuropathy - complex v0.117 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.117 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Hereditary Neuropathy - complex v0.117 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.116 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[X]
Expanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2.
Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease.
Normal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier.
Intermediate range: 41-60 identified in Parkinson's disease
Pathogenic repeat range: >=60-520
Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Hereditary Neuropathy - complex v0.115 Bryony Thompson removed STR:NIID from the panel
Hereditary Neuropathy - complex v0.114 NIID Bryony Thompson Marked STR: NIID as ready
Hereditary Neuropathy - complex v0.114 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.114 NIID Bryony Thompson Classified STR: NIID as Green List (high evidence)
Hereditary Neuropathy - complex v0.114 NIID Bryony Thompson Str: niid has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.113 NIID Bryony Thompson STR: NIID was added
STR: NIID was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102
Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866
Review for STR: NIID was set to GREEN
STR: NIID was marked as clinically relevant
Added comment: NM_001364012.2:c.-164GGC[(66_517)] Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 7-60 Pathogenic repeat range: >=61-500 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals.
Sources: Literature
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Marked gene: PSMC3 as ready
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Classified gene: PSMC3 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.112 PSMC3 Zornitza Stark Gene: psmc3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.111 PSMC3 Zornitza Stark gene: PSMC3 was added
gene: PSMC3 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMC3 were set to 32500975
Phenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354
Review for gene: PSMC3 was set to AMBER
Added comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model.
Sources: Literature
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Marked gene: SBF1 as ready
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Classified gene: SBF1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.110 SBF1 Zornitza Stark Gene: sbf1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.109 SBF1 Zornitza Stark gene: SBF1 was added
gene: SBF1 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: SBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SBF1 were set to 23749797; 23749797; 32444983; 30039846; 28005197
Phenotypes for gene: SBF1 were set to Charcot-Marie-Tooth disease, type 4B3 , MIM#615284; MONDO:0014117
Review for gene: SBF1 was set to GREEN
Added comment: At least 5 unrelated families reported. Some with isolated neuropathy and others with additional neurological and syndromic features, including DD/ID and congenital anomalies.
Sources: Expert Review
Hereditary Neuropathy - complex v0.108 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Hereditary Neuropathy - complex v0.107 SLC25A46 Zornitza Stark changed review comment from: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy.
Sources: Expert list; to: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.
Sources: Expert list
Hereditary Neuropathy - complex v0.107 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Hereditary Neuropathy - complex v0.107 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Hereditary Neuropathy - complex v0.107 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family identified
Hereditary Neuropathy - complex v0.107 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.106 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Hereditary Neuropathy - complex v0.104 POLR3B Zornitza Stark Marked gene: POLR3B as ready
Hereditary Neuropathy - complex v0.104 POLR3B Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants in this gene cause a leukodystrophy.
Hereditary Neuropathy - complex v0.104 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.104 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Ataxia, spasticity, and demyelinating neuropathy
Hereditary Neuropathy - complex v0.103 POLR3B Zornitza Stark Mode of inheritance for gene: POLR3B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.102 POLR3B Zornitza Stark Classified gene: POLR3B as Green List (high evidence)
Hereditary Neuropathy - complex v0.102 POLR3B Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.101 POLR3B Elena Savva gene: POLR3B was added
gene: POLR3B was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: POLR3B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR3B were set to PMID: 33417887
Phenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
Review for gene: POLR3B was set to GREEN
Added comment: PMID: 33417887: Six unrelated individuals with de novo missense variants.
Patients had ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy.
Protein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability.
Sources: Literature
Hereditary Neuropathy - complex v0.101 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Hereditary Neuropathy - complex v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.101 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.101 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.100 MORC2 Zornitza Stark gene: MORC2 was added
gene: MORC2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to 32693025; 26497905; 26659848
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090
Review for gene: MORC2 was set to GREEN
Added comment: Reported in 5 families with isolated CMT. Recent cohort of 20 individuals with more complex neurodevelopmental phenotype comprising DD, ID (18/20 - mild to severe), short stature (18/20), microcephaly (15/20) and variable craniofacial dysmorphisms. Features suggestive of neuropathy (weakness, hyporeflexia, abnormal EMG/NCS) were frequent but not the predominant complaint. EMG/NCS abnormalities were abnormal in 6 out of 10 subjects investigated in this cohort. Other findings included brain MRI abnormalities (12/18 - in 5/18 Leigh-like lesions), hearing loss (11/19) and pigmentary retinopathy in few (5).
Sources: Literature
Hereditary Neuropathy - complex v0.99 NUDT2 Zornitza Stark Marked gene: NUDT2 as ready
Hereditary Neuropathy - complex v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.99 NUDT2 Zornitza Stark Classified gene: NUDT2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.99 NUDT2 Zornitza Stark Gene: nudt2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.98 NUDT2 Zornitza Stark gene: NUDT2 was added
gene: NUDT2 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 33058507; 27431290; 30059600; 33058507
Phenotypes for gene: NUDT2 were set to Muscular hypotonia; Global developmental delay; Intellectual disability; Polyneuropathy
Review for gene: NUDT2 was set to GREEN
Added comment: Eight families reported altogether, though some have same founder variant. Four had polyneuropathy as part of the phenotype.
Sources: Literature
Hereditary Neuropathy - complex v0.97 SETX Zornitza Stark Marked gene: SETX as ready
Hereditary Neuropathy - complex v0.97 SETX Zornitza Stark Gene: setx has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.97 SETX Zornitza Stark Phenotypes for gene: SETX were changed from dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 to dHMN/dSMA; Amyotrophic lateral sclerosis 4, juvenile MIM# 602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy - complex v0.96 SETX Zornitza Stark Publications for gene: SETX were set to
Hereditary Neuropathy - complex v0.95 SETX Zornitza Stark Mode of inheritance for gene: SETX was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.94 SETX Zornitza Stark reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.94 SETX Elena Savva reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23129421, 16644229, 30052327; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM# 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM# 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.94 CANVAS_ACAGG Bryony Thompson Marked STR: CANVAS_ACAGG as ready
Hereditary Neuropathy - complex v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.94 CANVAS_ACAGG Bryony Thompson Classified STR: CANVAS_ACAGG as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.94 CANVAS_ACAGG Bryony Thompson Added comment: Comment on list classification: Used the pathogenic cut-off of 400 repeats from original CANVAS repeat
Hereditary Neuropathy - complex v0.94 CANVAS_ACAGG Bryony Thompson Str: canvas_acagg has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.93 CANVAS_ACAGG Bryony Thompson STR: CANVAS_ACAGG was added
STR: CANVAS_ACAGG was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for STR: CANVAS_ACAGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS_ACAGG were set to 33103729
Phenotypes for STR: CANVAS_ACAGG were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; fasciculations; elevated serum creatine kinase levels; denervation
Review for STR: CANVAS_ACAGG was set to AMBER
Added comment: A novel RFC1 repeat expansion motif, (ACAGG)exp, identified homozygous in three affected individuals from 2 families in an Asian-Pacific cohort for CANVAS. Southern blot was used to identify the repeat was ~1000kb in one of the cases, equivalent to ~1000 repeats.
Sources: Literature
Hereditary Neuropathy - complex v0.92 NEMF Zornitza Stark Phenotypes for gene: NEMF were changed from Intellectual disability; neuropathy to Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099; Intellectual disability; neuropathy
Hereditary Neuropathy - complex v0.91 NEMF Zornitza Stark edited their review of gene: NEMF: Changed phenotypes: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, MIM# 619099, Intellectual disability, neuropathy
Hereditary Neuropathy - complex v0.91 NARS Zornitza Stark Phenotypes for gene: NARS were changed from Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092; Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Hereditary Neuropathy - complex v0.90 NARS Zornitza Stark edited their review of gene: NARS: Changed phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092, Abnormal muscle tone, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Ataxia, Abnormality of the face, Demyelinating peripheral neuropathy
Hereditary Neuropathy - complex v0.90 RFC1 Bryony Thompson Classified gene: RFC1 as No list
Hereditary Neuropathy - complex v0.90 RFC1 Bryony Thompson Added comment: Comment on list classification: STR is the only reported cause of condition. It is present under the STRs in this panel.
Hereditary Neuropathy - complex v0.90 RFC1 Bryony Thompson Gene: rfc1 has been removed from the panel.
Hereditary Neuropathy - complex v0.89 CANVAS Bryony Thompson Classified STR: CANVAS as Green List (high evidence)
Hereditary Neuropathy - complex v0.89 CANVAS Bryony Thompson Str: canvas has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.88 CANVAS Bryony Thompson STR: CANVAS was added
STR: CANVAS was added to Hereditary Neuropathy - complex. Sources: Expert list
STR tags were added to STR: CANVAS.
Mode of inheritance for STR: CANVAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: CANVAS were set to 30926972
Phenotypes for STR: CANVAS were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Review for STR: CANVAS was set to GREEN
STR: CANVAS was marked as clinically relevant
STR: CANVAS was marked as current diagnostic
Added comment: Simple tandem repeat (AAAAG)11 replaced with (AAGGG)n in intron 2 of RFC1. Loss of function is not the mechanism of disease.
Sources: Expert list
Hereditary Neuropathy - complex v0.87 NEMF Zornitza Stark Mode of inheritance for gene: NEMF was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.86 NEMF Zornitza Stark changed review comment from: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature; to: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.

Single individual with de novo variant reported, postulated dominant negative effect. Evidence for mono allelic variants causing disease is limited.
Sources: Literature
Hereditary Neuropathy - complex v0.86 NEMF Zornitza Stark edited their review of gene: NEMF: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.86 TRIP4 Zornitza Stark Marked gene: TRIP4 as ready
Hereditary Neuropathy - complex v0.86 TRIP4 Zornitza Stark Gene: trip4 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.86 TRIP4 Zornitza Stark Phenotypes for gene: TRIP4 were changed from Spinal muscular atrophy with congenital bone fractures 1 to Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866
Hereditary Neuropathy - complex v0.85 TRIP4 Zornitza Stark Publications for gene: TRIP4 were set to
Hereditary Neuropathy - complex v0.84 TRIP4 Zornitza Stark reviewed gene: TRIP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924529; Phenotypes: Spinal muscular atrophy with congenital bone fractures 1, MIM# 616866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Marked gene: EXOSC9 as ready
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Classified gene: EXOSC9 as Green List (high evidence)
Hereditary Neuropathy - complex v0.84 EXOSC9 Zornitza Stark Gene: exosc9 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.83 EXOSC9 Zornitza Stark gene: EXOSC9 was added
gene: EXOSC9 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 30690203; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, MIM# 618065
Review for gene: EXOSC9 was set to GREEN
Added comment: Six unrelated families reported, p.Leu14Pro variant is recurrent, disorder combines cerebellar atrophy and spinal motoneuronopathy.
Sources: Expert Review
Hereditary Neuropathy - complex v0.82 EXOSC8 Zornitza Stark Phenotypes for gene: EXOSC8 were changed from dHMN/dSMA; Pontocerebellar hypoplasia, type 1c to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c, MIM# 616081
Hereditary Neuropathy - complex v0.81 EXOSC8 Zornitza Stark Publications for gene: EXOSC8 were set to
Hereditary Neuropathy - complex v0.80 EXOSC8 Zornitza Stark Classified gene: EXOSC8 as Green List (high evidence)
Hereditary Neuropathy - complex v0.80 EXOSC8 Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.79 EXOSC8 Zornitza Stark Deleted their comment
Hereditary Neuropathy - complex v0.79 EXOSC8 Zornitza Stark commented on gene: EXOSC8: Panel is both paediatric and adult, condition has an SMA component in addition to the PCH.
Hereditary Neuropathy - complex v0.79 EXOSC8 Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Marked gene: NEMF as ready
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Classified gene: NEMF as Green List (high evidence)
Hereditary Neuropathy - complex v0.79 NEMF Zornitza Stark Gene: nemf has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.78 NEMF Zornitza Stark gene: NEMF was added
gene: NEMF was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: NEMF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEMF were set to 32934225
Phenotypes for gene: NEMF were set to Intellectual disability; neuropathy
Review for gene: NEMF was set to GREEN
Added comment: Nine individuals from 7 unrelated families reported with a mixed CNS/PNS phenotype. 7/9 had ID, 4/9 had formal assessments demonstrating axonal neuropathy, 3/9 had ataxia; muscular atrophy, hypotonia, respiratory distress, scoliosis also described in some. Three independently generated mouse models had progressive motor neuron degeneration.
Sources: Literature
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is ADPRS.
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.77 ADPRHL2 Zornitza Stark Tag new gene name tag was added to gene: ADPRHL2.
Hereditary Neuropathy - complex v0.77 NARS Zornitza Stark Marked gene: NARS as ready
Hereditary Neuropathy - complex v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.77 NARS Zornitza Stark Classified gene: NARS as Green List (high evidence)
Hereditary Neuropathy - complex v0.77 NARS Zornitza Stark Gene: nars has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.76 NARS Zornitza Stark gene: NARS was added
gene: NARS was added to Hereditary Neuropathy - complex. Sources: Literature
new gene name tags were added to gene: NARS.
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225
Phenotypes for gene: NARS were set to Abnormal muscle tone; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Ataxia; Abnormality of the face; Demyelinating peripheral neuropathy
Review for gene: NARS was set to GREEN
Added comment: [Please note that HGNC Approved Gene Symbol for this gene is NARS1] Manole et al (2020 - PMID: 32738225) provide evidence that both biallelic and monoallelic (de novo) pathogenic NARS1 variants cause a neurodevelopmental disorder. In total 32 individuals from 21 families are reported, with biallelic variants identified in individuals from 13 families and de novo in 8 families. Similar features were reported for AR/AD occurrences of the disorder and included microcephaly (90% - most often primary), epilepsy (23/32 or 74% - variable semiology incl. partial/myoclonic/generalized tonic-clonic seizures), DD and ID (as a universal feature), abnormal tone in several (hypotonia/spasticity), ataxia, demyelinating peripheral neuropathy (in 3 or more for each inheritance mode - or a total of 25%). Some individuals had dysmorphic features. NARS1 encodes an aminoacyl-tRNA synthetase (ARS) [asparaginyl-tRNA synthetase 1]. Aminoacyl-tRNA synthetases constitute a family of enzymes catalyzing attachment of amino-acids to their cognate tRNAs. As the authors comment, mutations in genes encoding several other ARSs result in neurological disorders ranging from peripheral neuropathy to severe multi-systemic NDD. Dominant, recessive or both modes for inheritance for mutations in the same gene (e.g. AARS1, YARS1, MARS1, etc) have been reported. Some variants were recurrent, e.g. the c.1600C>T / p.Arg534* which occurred in 6 families as a de novo event or c.1633C>T p.Arg545Cys (homozygous in 6 families). 3 different variants were reported to have occured de novo (c.965G>T - p.Arg322Leu, c.1525G>A - p.Gly509Ser, p.Arg534*) with several other variants identified in hmz/compound htz individuals. A single SNV (c.1067A>C - p.Asp356Ala) was suggested to be acting as modifier and pathogenic only when in trans with a severe variant. [NM_004539.4 used as RefSeq for all]. The authors provide several lines of evidence for a partial loss-of-function effect (e.g. reduction in mRNA expression, enzyme levels and activity in fibroblasts or iNPCs) underlying pathogenicity of the variants identified in individuals with biallelic variants. A gain-of-function (dominant-negative) effect is proposed for de novo variants (such effect also demonstrated for the p.Arg534* in a zebrafish model).
Sources: Literature
Hereditary Neuropathy - complex v0.75 ACOX1 Zornitza Stark Marked gene: ACOX1 as ready
Hereditary Neuropathy - complex v0.75 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.75 ACOX1 Zornitza Stark Classified gene: ACOX1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.75 ACOX1 Zornitza Stark Gene: acox1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.74 ACOX1 Zornitza Stark changed review comment from: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Sources: Expert list; to: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Note that bi-allelic variants in this gene cause a peroxisomal disorder.
Sources: Expert list
Hereditary Neuropathy - complex v0.74 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: ACOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACOX1 were set to 32169171
Phenotypes for gene: ACOX1 were set to Mitchell syndrome, MIM# 618960
Review for gene: ACOX1 was set to GREEN
Added comment: Three unrelated individuals reported with de novo recurrent missense p.N237S, associated with a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Sources: Expert list
Hereditary Neuropathy - complex v0.73 STUB1 Zornitza Stark Classified gene: STUB1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.73 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.72 STUB1 Zornitza Stark gene: STUB1 was added
gene: STUB1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STUB1 were set to 32342324; 32337344
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Review for gene: STUB1 was set to GREEN
Added comment: PMID: 32342324 - Gene causes both AD and AR spinocerebellar ataxia. Reviews 17 families (31 patients, adolescent/childhood onset), all patients developed progressive cerebellar ataxia, associated with dysmetria and dysarthria, corticospinal signs (19/31), myoclonus (7/31) and generalized tonic– clonic seizures (4/31), peripheral nervous system involvement (4/12). PMID: 32337344 - 1 large family with adult-onset gait disturbance and cognitive decline. Neuropathy is a feature of the more severe, bi-allelic disorder.
Sources: Literature
Hereditary Neuropathy - complex v0.71 SGPL1 Zornitza Stark Marked gene: SGPL1 as ready
Hereditary Neuropathy - complex v0.71 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.71 SGPL1 Zornitza Stark Classified gene: SGPL1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.71 SGPL1 Zornitza Stark Gene: sgpl1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.70 Zornitza Stark removed gene:ATP6AP2 from the panel
Hereditary Neuropathy - complex v0.69 SGPL1 Crystle Lee gene: SGPL1 was added
gene: SGPL1 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28077491; 28165339; 30274713; 28165343
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14 (MIM#617575)
Review for gene: SGPL1 was set to AMBER
Added comment: Peripheral neuropathy has been reported in patients however does not appear to be consistent feature.

PMID: 28077491: Reported as a cause of CMT in 2 sibs

PMID: 28165339: Reported 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects. Peripheral neuropathy (motor and sensory) reported in one family.

PMID: 30274713: Review article.
Sources: Expert Review
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Marked gene: ADPRHL2 as ready
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Classified gene: ADPRHL2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.69 ADPRHL2 Zornitza Stark Gene: adprhl2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.68 FDX2 Zornitza Stark Marked gene: FDX2 as ready
Hereditary Neuropathy - complex v0.68 FDX2 Zornitza Stark Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.68 FDX2 Zornitza Stark Classified gene: FDX2 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.68 FDX2 Zornitza Stark Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.67 FDX2 Crystle Lee gene: FDX2 was added
gene: FDX2 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDX2 were set to 30010796; 24281368; 28803783
Phenotypes for gene: FDX2 were set to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MIM#251900)
Review for gene: FDX2 was set to AMBER
Added comment: Gene previously known as FDX1L. Limited evidence (1 family) suporting neuropathy being a feature of the associated condition

PMID: 30010796: Reported same variant in 2 apparently unrelated Brazilian families. Axonal
sensori-motor polyneuropathy reported in 4 out of the 6 patients. OMIM notes that peripheral neuropathy has onset in the second decade.
Sources: Expert Review
Hereditary Neuropathy - complex v0.67 ADPRHL2 Crystle Lee gene: ADPRHL2 was added
gene: ADPRHL2 was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30100084; 30401461
Phenotypes for gene: ADPRHL2 were set to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)
Review for gene: ADPRHL2 was set to GREEN
Added comment: Peripheral (sensori-)motor axonal neuropathy is a feature of this progressive neurodegenerative disorder. >5 families have been reported.
Sources: Expert Review
Hereditary Neuropathy - complex v0.67 ATP6AP2 Elena Savva gene: ATP6AP2 was added
gene: ATP6AP2 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to PMID: 30985297; 23595882
Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911
Review for gene: ATP6AP2 was set to GREEN
Added comment: PMID: 30985297 - 1 de novo male patient with postnatal neurodegeneration, seizures, mild face dysmorphism. Sequential MRI revealed decreasing gray and white matter volumes. Patient has a splice variant proven to cause alternative transcript expression. Supported by null mouse model.

PMID: 23595882 - 2 patients (1 family) with a synonymous variant proven to affect splicing. Patients have X-linked parkinsonian syndrome

Summary: 2 unrelated patients + animal models
Sources: Expert list
Hereditary Neuropathy - complex v0.67 EMILIN1 Zornitza Stark Marked gene: EMILIN1 as ready
Hereditary Neuropathy - complex v0.67 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.67 EMILIN1 Zornitza Stark Classified gene: EMILIN1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.67 EMILIN1 Zornitza Stark Gene: emilin1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.66 EMILIN1 Zornitza Stark gene: EMILIN1 was added
gene: EMILIN1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: EMILIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EMILIN1 were set to 31978608; 26462740
Phenotypes for gene: EMILIN1 were set to Peripheral neuropathy; aortic aneurysm
Review for gene: EMILIN1 was set to AMBER
Added comment: Missense mutations identified in two families. First family, proband presented with ascending and descending aortic aneurysms, bilateral lower leg and foot sensorimotor peripheral neuropathy, arthropathy, and increased skin elasticity. Variant segregated with disease in the affected proband, mother, and son. Second family, father and three affected children showed amyotrophy and weakness of the distal lower limbs, dating back to early childhood. Some functional studies performed in patient fibroblasts and zebrafish, however these were not conclusive as the two missense mutations are at different locations within the protein.
Sources: Literature
Hereditary Neuropathy - complex v0.65 MCM3AP Zornitza Stark Marked gene: MCM3AP as ready
Hereditary Neuropathy - complex v0.65 MCM3AP Zornitza Stark Gene: mcm3ap has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.65 MCM3AP Zornitza Stark Publications for gene: MCM3AP were set to
Hereditary Neuropathy - complex v0.64 MCM3AP Zornitza Stark edited their review of gene: MCM3AP: Added comment: PMID: 32202298 - Woldegebriel et al 2020 - report a further two families, one in the Netherlands and one in Estonia, with probands with compound heterozygous variants in MCM3AP and a peripheral neuropathy with or without impaired intellectual development (MIM 618124) phenotype. The child from the Netherlands presented with severe hypotonia and intellectual disability. The two siblings from the Estonian family had severe generalized epilepsy and mild spastic diplegia. Functional studies using skin fibroblasts from these and other affected patients showed that disease variants result in depletion of GANP (encoded by MCM3AP) except when they alter critical residues in the Sac3 mRNA binding domain. GANP depletion was associated with more severe phenotypes compared with the Sac3 variants.; Changed publications: 24123876, 28633435, 28969388, 29982295, 32202298
Hereditary Neuropathy - complex v0.64 KLC2 Bryony Thompson edited their review of gene: KLC2: Changed rating: GREEN
Hereditary Neuropathy - complex v0.64 DCAF8 Bryony Thompson Classified gene: DCAF8 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.64 DCAF8 Bryony Thompson Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.63 DCAF8 Bryony Thompson edited their review of gene: DCAF8: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.63 DCAF8 Bryony Thompson reviewed gene: DCAF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 24500646; Phenotypes: Giant axonal neuropathy 2, autosomal dominant MIM#610100; Mode of inheritance: None
Hereditary Neuropathy - complex v0.63 ARL6IP1 Bryony Thompson Marked gene: ARL6IP1 as ready
Hereditary Neuropathy - complex v0.63 ARL6IP1 Bryony Thompson Gene: arl6ip1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.63 ARL6IP1 Bryony Thompson reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 31272422, 30980493, 28471035; Phenotypes: Spastic paraplegia 61, autosomal recessive MIM#615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.63 SLC12A6 Zornitza Stark Marked gene: SLC12A6 as ready
Hereditary Neuropathy - complex v0.63 SLC12A6 Zornitza Stark Gene: slc12a6 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.63 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT
Hereditary Neuropathy - complex v0.62 SLC12A6 Zornitza Stark Publications for gene: SLC12A6 were set to
Hereditary Neuropathy - complex v0.61 SLC12A6 Zornitza Stark Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.60 SLC12A6 Zornitza Stark reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MM# 218000, Intermediate CMT; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.60 PDXK Zornitza Stark Marked gene: PDXK as ready
Hereditary Neuropathy - complex v0.60 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.60 PDXK Zornitza Stark Classified gene: PDXK as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.60 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.59 PDXK Zornitza Stark gene: PDXK was added
gene: PDXK was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDXK were set to 31187503
Phenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy
Review for gene: PDXK was set to AMBER
Added comment: 5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation.
Sources: Literature
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Marked gene: KLC2 as ready
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Classified gene: KLC2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.58 KLC2 Zornitza Stark Gene: klc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.57 KLC2 Zornitza Stark reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia, optic atrophy, and neuropathy MIM#609541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.57 DHH Zornitza Stark Marked gene: DHH as ready
Hereditary Neuropathy - complex v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.57 DHH Zornitza Stark Classified gene: DHH as Green List (high evidence)
Hereditary Neuropathy - complex v0.57 DHH Zornitza Stark Gene: dhh has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.56 DHH Zornitza Stark gene: DHH was added
gene: DHH was added to Hereditary Neuropathy - complex. Sources: Expert Review
Mode of inheritance for gene: DHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHH were set to 31018998; 29471294; 11017805
Phenotypes for gene: DHH were set to 46XY partial gonadal dysgenesis, with minifascicular neuropathy, MIM# 607080
Review for gene: DHH was set to GREEN
Added comment: Neuropathy is part of the phenotype of this DSD.
Sources: Expert Review
Hereditary Neuropathy - complex v0.55 CCT5 Bryony Thompson Classified gene: CCT5 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.55 CCT5 Bryony Thompson Gene: cct5 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.54 CCT5 Bryony Thompson edited their review of gene: CCT5: Changed rating: AMBER
Hereditary Neuropathy - complex v0.54 CCT5 Bryony Thompson Classified gene: CCT5 as Red List (low evidence)
Hereditary Neuropathy - complex v0.54 CCT5 Bryony Thompson Gene: cct5 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.53 CCT5 Bryony Thompson reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.53 XRCC1 Bryony Thompson Classified gene: XRCC1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.53 XRCC1 Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.52 XRCC1 Bryony Thompson gene: XRCC1 was added
gene: XRCC1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403; 29472272
Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633
Review for gene: XRCC1 was set to GREEN
Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia.
Sources: Expert list
Hereditary Neuropathy - complex v0.51 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy - complex v0.49 FLVCR1 Zornitza Stark Marked gene: FLVCR1 as ready
Hereditary Neuropathy - complex v0.49 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.49 FLVCR1 Zornitza Stark Classified gene: FLVCR1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.49 FLVCR1 Zornitza Stark Gene: flvcr1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.48 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 21267618; 21070897
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, MIM# 609033
Review for gene: FLVCR1 was set to GREEN
gene: FLVCR1 was marked as current diagnostic
Added comment: Sources: Expert list
Hereditary Neuropathy - complex v0.47 RFC1 Zornitza Stark Marked gene: RFC1 as ready
Hereditary Neuropathy - complex v0.47 RFC1 Zornitza Stark Gene: rfc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.47 RFC1 Zornitza Stark Tag STR tag was added to gene: RFC1.
Hereditary Neuropathy - complex v0.47 RFC1 Zornitza Stark Classified gene: RFC1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.47 RFC1 Zornitza Stark Gene: rfc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.46 RFC1 Zornitza Stark gene: RFC1 was added
gene: RFC1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFC1 were set to 30926972
Phenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM 614575
Review for gene: RFC1 was set to GREEN
Added comment: 23 affected individuals from 11 families reported with biallelic AAGGG repeat expansion in intron 2. Expansion carrier frequency of 0.7% in Europeans.
Sources: Literature
Hereditary Neuropathy - complex v0.45 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Hereditary Neuropathy - complex v0.45 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.45 SLC25A46 Zornitza Stark Classified gene: SLC25A46 as Green List (high evidence)
Hereditary Neuropathy - complex v0.45 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.44 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary Neuropathy - complex. Sources: Expert list
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012; 27543974
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Review for gene: SLC25A46 was set to GREEN
Added comment: Multiple families reported. Clinical presentation is highly variable. Complex progressive neurologic disorder characterised mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy.
Sources: Expert list
Hereditary Neuropathy - complex v0.43 PPOX Zornitza Stark Marked gene: PPOX as ready
Hereditary Neuropathy - complex v0.43 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.43 PPOX Zornitza Stark Classified gene: PPOX as Green List (high evidence)
Hereditary Neuropathy - complex v0.43 PPOX Zornitza Stark Gene: ppox has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.42 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata, MIM# 176200
Review for gene: PPOX was set to GREEN
Added comment: Neuropathy is part of the phenotype.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.41 NAGA Zornitza Stark Marked gene: NAGA as ready
Hereditary Neuropathy - complex v0.41 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.41 NAGA Zornitza Stark Classified gene: NAGA as Green List (high evidence)
Hereditary Neuropathy - complex v0.41 NAGA Zornitza Stark Gene: naga has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.40 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Kanzaki disease, MIM#609242
Review for gene: NAGA was set to GREEN
Added comment: Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.39 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Hereditary Neuropathy - complex v0.39 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.39 IARS2 Zornitza Stark Classified gene: IARS2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.39 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.38 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 28328135; 30419932; 25130867; 30041933
Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Review for gene: IARS2 was set to GREEN
Added comment: Sources: NHS GMS
Hereditary Neuropathy - complex v0.37 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Hereditary Neuropathy - complex v0.37 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.37 GJC2 Zornitza Stark Classified gene: GJC2 as Green List (high evidence)
Hereditary Neuropathy - complex v0.37 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.36 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM# 608804
Review for gene: GJC2 was set to GREEN
Added comment: Demyelinating neuropathy; axonal sensory neuropathy.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.35 FXN Zornitza Stark Marked gene: FXN as ready
Hereditary Neuropathy - complex v0.35 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.35 FXN Zornitza Stark Tag STR tag was added to gene: FXN.
Hereditary Neuropathy - complex v0.35 FXN Zornitza Stark Classified gene: FXN as Green List (high evidence)
Hereditary Neuropathy - complex v0.35 FXN Zornitza Stark Gene: fxn has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.34 FXN Zornitza Stark gene: FXN was added
gene: FXN was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreich ataxia, MIM# 229300
Mode of pathogenicity for gene: FXN was set to Other
Review for gene: FXN was set to GREEN
Added comment: Peripheral sensory neuropathy is part of the phenotype. Note only ~2% of cases are due to SNVs, majority due to STRs.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.33 FAH Zornitza Stark Marked gene: FAH as ready
Hereditary Neuropathy - complex v0.33 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.33 FAH Zornitza Stark Classified gene: FAH as Green List (high evidence)
Hereditary Neuropathy - complex v0.33 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.32 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM# 276700
Review for gene: FAH was set to GREEN
Added comment: Episodic peripheral neuropathy.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Classified gene: DGUOK as Green List (high evidence)
Hereditary Neuropathy - complex v0.31 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.30 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 Portal hypertension, noncirrhotic, 617068 Neonatal liver failure, myopathy, sensory-motor axonal neuropathy
Review for gene: DGUOK was set to GREEN
Added comment: Sources: NHS GMS
Hereditary Neuropathy - complex v0.29 CPOX Zornitza Stark Marked gene: CPOX as ready
Hereditary Neuropathy - complex v0.29 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.29 CPOX Zornitza Stark Classified gene: CPOX as Green List (high evidence)
Hereditary Neuropathy - complex v0.29 CPOX Zornitza Stark Gene: cpox has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.28 CPOX Zornitza Stark gene: CPOX was added
gene: CPOX was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CPOX were set to Coproporphyria, MIM#121300; Harderoporphyria, MIM#121300
Review for gene: CPOX was set to GREEN
Added comment: Acute intermittent porphyria-like phenotype, including neuropathy.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.27 CD59 Zornitza Stark Marked gene: CD59 as ready
Hereditary Neuropathy - complex v0.27 CD59 Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.27 CD59 Zornitza Stark Classified gene: CD59 as Green List (high evidence)
Hereditary Neuropathy - complex v0.27 CD59 Zornitza Stark Gene: cd59 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.26 CD59 Zornitza Stark gene: CD59 was added
gene: CD59 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: CD59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD59 were set to 24382084; 23149847
Phenotypes for gene: CD59 were set to Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy 612300
Review for gene: CD59 was set to GREEN
Added comment: Infantile onset of a relapsing-remitting polyneuropathy, often exacerbated by infection, and manifest as hypotonia, limb muscle weakness, and hyporeflexia.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Classified gene: BCKDHB as Green List (high evidence)
Hereditary Neuropathy - complex v0.25 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.24 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy
Review for gene: BCKDHB was set to GREEN
Added comment: Sources: NHS GMS
Hereditary Neuropathy - complex v0.23 APOA1 Zornitza Stark Marked gene: APOA1 as ready
Hereditary Neuropathy - complex v0.23 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.23 APOA1 Zornitza Stark Classified gene: APOA1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.23 APOA1 Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.22 APOA1 Zornitza Stark gene: APOA1 was added
gene: APOA1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: APOA1 were set to Amyloidosis, 3 or more types 105200; Renal failure, Axonal sensory-motor neuropathy, amyloid nephropathy
Review for gene: APOA1 was set to GREEN
Added comment: Neuropathy is a predominant feature, particularly of the Iowa type, associated with p.Gly26Arg
Sources: NHS GMS
Hereditary Neuropathy - complex v0.21 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Hereditary Neuropathy - complex v0.21 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.21 AIFM1 Zornitza Stark Publications for gene: AIFM1 were set to
Hereditary Neuropathy - complex v0.20 AIFM1 Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 3856385, 22019070, 26173962, 25583628; Phenotypes: Combined oxidative phosphorylation deficiency 6, Cowchock syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary Neuropathy - complex v0.20 AGXT Zornitza Stark Marked gene: AGXT as ready
Hereditary Neuropathy - complex v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.20 AGXT Zornitza Stark Classified gene: AGXT as Green List (high evidence)
Hereditary Neuropathy - complex v0.20 AGXT Zornitza Stark Gene: agxt has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.19 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, MIM#259900
Review for gene: AGXT was set to GREEN
Added comment: Multi-system oxalate deposition including leading to neuropathy.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.18 AGTPBP1 Zornitza Stark Marked gene: AGTPBP1 as ready
Hereditary Neuropathy - complex v0.18 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.18 AGTPBP1 Zornitza Stark Classified gene: AGTPBP1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.18 AGTPBP1 Zornitza Stark Gene: agtpbp1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.17 AGTPBP1 Zornitza Stark gene: AGTPBP1 was added
gene: AGTPBP1 was added to Hereditary Neuropathy - complex. Sources: NHS GMS
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557
Phenotypes for gene: AGTPBP1 were set to Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy; Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276
Review for gene: AGTPBP1 was set to GREEN
Added comment: Thirteen individuals with bi-allelic variants in this gene, neuropathy is a major feature.
Sources: NHS GMS
Hereditary Neuropathy - complex v0.16 AAAS Zornitza Stark Marked gene: AAAS as ready
Hereditary Neuropathy - complex v0.16 AAAS Zornitza Stark Gene: aaas has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.16 AAAS Zornitza Stark Phenotypes for gene: AAAS were changed from HMSN; Glucocorticoid deficiency with achalasia to HMSN; Glucocorticoid deficiency with achalasia; Achalasia-addisonianism-alacrimia syndrome, MIM# 231550
Hereditary Neuropathy - complex v0.15 AAAS Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM# 231550; Mode of inheritance: None
Hereditary Neuropathy - complex v0.14 Bryony Thompson Panel name changed from Hereditary Neuropathy - complex_RMH to Hereditary Neuropathy - complex
Panel types changed to Royal Melbourne Hospital; Rare Disease
Hereditary Neuropathy - complex v0.13 PEX12 Bryony Thompson reviewed gene: PEX12: Rating: RED; Mode of pathogenicity: None; Publications: 24627108; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.13 NIPA1 Bryony Thompson reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: None; Publications: 21419568; Phenotypes: Spastic paraplegia 6, autosomal dominant MIM#600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.13 IFRD1 Bryony Thompson reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493, 19409521; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary Neuropathy - complex v0.13 GJB3 Bryony Thompson Marked gene: GJB3 as ready
Hereditary Neuropathy - complex v0.13 GJB3 Bryony Thompson Gene: gjb3 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.13 GJB3 Bryony Thompson reviewed gene: GJB3: Rating: RED; Mode of pathogenicity: None; Publications: 11309368, 19755382, 16077902, 17142249, 12165562; Phenotypes: ; Mode of inheritance: None
Hereditary Neuropathy - complex v0.13 AMPD2 Bryony Thompson Marked gene: AMPD2 as ready
Hereditary Neuropathy - complex v0.13 AMPD2 Bryony Thompson Gene: ampd2 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.13 AMPD2 Bryony Thompson reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: None; Publications: 27066553; Phenotypes: ; Mode of inheritance: None
Hereditary Neuropathy - complex v0.13 Bryony Thompson removed gene:RBM7 from the panel
Hereditary Neuropathy - complex v0.12 PEX10 Bryony Thompson changed review comment from: Three unrelated families/cases reported with axonal motor neuropathy; to: Three unrelated families/cases reported with a complex phenotype including axonal motor neuropathy
Hereditary Neuropathy - complex v0.12 PEX10 Bryony Thompson Marked gene: PEX10 as ready
Hereditary Neuropathy - complex v0.12 PEX10 Bryony Thompson Gene: pex10 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.12 PEX10 Bryony Thompson Classified gene: PEX10 as Green List (high evidence)
Hereditary Neuropathy - complex v0.12 PEX10 Bryony Thompson Gene: pex10 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.11 PEX10 Bryony Thompson reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 27230853, 20695019; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870, Peroxisome biogenesis disorder 6B MIM#614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.11 Bryony Thompson removed gene:PDK3 from the panel
Hereditary Neuropathy - complex v0.10 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Hereditary Neuropathy - complex v0.10 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.10 ASCC1 Bryony Thompson Classified gene: ASCC1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.10 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.9 ASCC1 Bryony Thompson edited their review of gene: ASCC1: Added comment: >3 cases/families reported with a complex neuropathy phenotype. Onset of disease is prenatal and death occurs in the first days or months of life.; Changed rating: GREEN; Changed publications: 31880396, 30327447, 26924529; Changed phenotypes: Spinal muscular atrophy with congenital bone fractures 2 MIM#616867, dHMN/dSMA; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.9 DEGS1 Bryony Thompson Marked gene: DEGS1 as ready
Hereditary Neuropathy - complex v0.9 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.9 DEGS1 Bryony Thompson Classified gene: DEGS1 as Green List (high evidence)
Hereditary Neuropathy - complex v0.9 DEGS1 Bryony Thompson Added comment: Comment on list classification: Complex phenotype including neuropathy
Hereditary Neuropathy - complex v0.9 DEGS1 Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.8 DEGS1 Bryony Thompson Deleted their review
Hereditary Neuropathy - complex v0.7 DEGS1 Bryony Thompson gene: DEGS1 was added
gene: DEGS1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert list
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: DEGS1 was set to GREEN
Added comment: Sources: Expert list
Hereditary Neuropathy - complex v0.6 SPTBN4 Bryony Thompson Classified gene: SPTBN4 as Green List (high evidence)
Hereditary Neuropathy - complex v0.6 SPTBN4 Bryony Thompson Gene: sptbn4 has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.5 SPTBN4 Bryony Thompson gene: SPTBN4 was added
gene: SPTBN4 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413; 29861105
Phenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519
Review for gene: SPTBN4 was set to GREEN
Added comment: 6 families with a severe neurological syndrome that includes congenital hypotonia, intellectual disability, and motor axonal and auditory neuropathy
Sources: Literature
Hereditary Neuropathy - complex v0.4 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Hereditary Neuropathy - complex_RMH. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to RED
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. The deletion is not detected by whole-exome sequencing. Later onset of sensorimotor peripheral neuropathy is a feature of the condition.
Sources: Literature
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Marked gene: EXOSC8 as ready
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Classified gene: EXOSC8 as Red List (low evidence)
Hereditary Neuropathy - complex v0.3 EXOSC8 Bryony Thompson Gene: exosc8 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.2 EXOSC8 Bryony Thompson reviewed gene: EXOSC8: Rating: RED; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.2 ASCC1 Bryony Thompson Marked gene: ASCC1 as ready
Hereditary Neuropathy - complex v0.2 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.2 ASCC1 Bryony Thompson Publications for gene: ASCC1 were set to
Hereditary Neuropathy - complex v0.1 ASCC1 Bryony Thompson Classified gene: ASCC1 as Red List (low evidence)
Hereditary Neuropathy - complex v0.1 ASCC1 Bryony Thompson Added comment: Comment on list classification: Not relevant for testing in an adult hospital. Onset of disease is prenatal and death occurs in the first days or months of life.
Hereditary Neuropathy - complex v0.1 ASCC1 Bryony Thompson Gene: ascc1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.0 ARSA Bryony Thompson gene: ARSA was added
gene: ARSA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary Neuropathy - complex v0.0 PMM2 Bryony Thompson gene: PMM2 was added
gene: PMM2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Neonatal-onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy
Hereditary Neuropathy - complex v0.0 MFF Bryony Thompson gene: MFF was added
gene: MFF was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFF were set to Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus)
Hereditary Neuropathy - complex v0.0 ERCC8 Bryony Thompson gene: ERCC8 was added
gene: ERCC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy - complex v0.0 ERCC6 Bryony Thompson gene: ERCC6 was added
gene: ERCC6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
Hereditary Neuropathy - complex v0.0 AP1S1 Bryony Thompson gene: AP1S1 was added
gene: AP1S1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AP1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP1S1 were set to Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Hereditary Neuropathy - complex v0.0 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, sensory neuronal hearing loss, hepatomegaly, pancreatic insufficiency, proximal placement of thumb, SNCV neuropathy
Hereditary Neuropathy - complex v0.0 AMPD2 Bryony Thompson gene: AMPD2 was added
gene: AMPD2 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 27066553
Phenotypes for gene: AMPD2 were set to Global developmental delay, spasticity, seizures, dysmorphic facies, axonal neuropathy, agenesis of the corpus callosum and cerebellar hypoplasia on MRI
Hereditary Neuropathy - complex v0.0 HEXB Bryony Thompson gene: HEXB was added
gene: HEXB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy - complex v0.0 SUCLA2 Bryony Thompson gene: SUCLA2 was added
gene: SUCLA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLA2 were set to ‘Leigh’-like syndrome, deafness, progressive dystonia, mild methylmaolnic acidaemia, peripheral neuropathy
Hereditary Neuropathy - complex v0.0 ATAD3A Bryony Thompson gene: ATAD3A was added
gene: ATAD3A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATAD3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATAD3A were set to Global developmental delay, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy
Hereditary Neuropathy - complex v0.0 NGLY1 Bryony Thompson gene: NGLY1 was added
gene: NGLY1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Developmental delay, choreoathetosis, alacrimia, seizures, microcephaly, transaminitis, neuropathy
Hereditary Neuropathy - complex v0.0 SNAP29 Bryony Thompson gene: SNAP29 was added
gene: SNAP29 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life
Hereditary Neuropathy - complex v0.0 AMACR Bryony Thompson gene: AMACR was added
gene: AMACR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMACR were set to Retinopathy, myelopathy, axonal or SNCV neuropathy, elevated phytanic and pristanic acids
Hereditary Neuropathy - complex v0.0 ABCD1 Bryony Thompson gene: ABCD1 was added
gene: ABCD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCD1 were set to Adrenomyeloneuropathy, spastic paraparesis, adrenal insufficiency, axonal sensory-motor neuropathy, sphincter disturbance
Hereditary Neuropathy - complex v0.0 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV
Hereditary Neuropathy - complex v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ALDH18A1 were set to Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities
Hereditary Neuropathy - complex v0.0 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI
Hereditary Neuropathy - complex v0.0 AFG3L2 Bryony Thompson gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AFG3L2 were set to Early-onset spastic paraplegia, later myoclonic epilepsy, sensory-motor axonal neuropathy, ataxia, dystonia
Hereditary Neuropathy - complex v0.0 CYP2U1 Bryony Thompson gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy
Hereditary Neuropathy - complex v0.0 C19orf12 Bryony Thompson gene: C19orf12 was added
gene: C19orf12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Childhood-onset spastic paraplegia and sensory-motor axonal neuropathy, NBIA with optic atrophy, extrapyramidal signs
Hereditary Neuropathy - complex v0.0 DDHD1 Bryony Thompson gene: DDHD1 was added
gene: DDHD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia, occasionally cerebellar eye signs and subclinical axonal neuropathy
Hereditary Neuropathy - complex v0.0 B4GALNT1 Bryony Thompson gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy
Hereditary Neuropathy - complex v0.0 ZFYVE26 Bryony Thompson gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZFYVE26 were set to HMSN; Spastic paraplegia 15
Hereditary Neuropathy - complex v0.0 DNAJC3 Bryony Thompson gene: DNAJC3 was added
gene: DNAJC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC3 were set to 25466870
Phenotypes for gene: DNAJC3 were set to Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus
Hereditary Neuropathy - complex v0.0 SCYL1 Bryony Thompson gene: SCYL1 was added
gene: SCYL1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21; Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy
Hereditary Neuropathy - complex v0.0 PDYN Bryony Thompson gene: PDYN was added
gene: PDYN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23
Hereditary Neuropathy - complex v0.0 PEX10 Bryony Thompson gene: PEX10 was added
gene: PEX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX10 were set to 27230853; 20695019
Phenotypes for gene: PEX10 were set to Failure to thrive, facial dimorphism, agenesis of the corpus callosum, death in first year of life, axonal motor neuropathy, progressive ataxia and sensory-motor axonal neuropathy in adulthood described
Hereditary Neuropathy - complex v0.0 DARS2 Bryony Thompson gene: DARS2 was added
gene: DARS2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Slowly progressive spasticity, ataxia and dorsal column dysfunction, sensory-motor axonal neuropathy, characteristic MRI findings
Hereditary Neuropathy - complex v0.0 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with vitamin E deficiency; Early-onset ataxia and sensory axonal neuropathy similar to Friedreich’s ataxia, head titubation, normal fat absorption unlike abetalipoproteinemia, rarely retinitis pigmentosa
Hereditary Neuropathy - complex v0.0 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy
Hereditary Neuropathy - complex v0.0 ATM Bryony Thompson gene: ATM was added
gene: ATM was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Childhood-onset progressive ataxia, conjunctival telangiectasia, sensory axonal neuropathy, chorea and dystonia, immunodeficiency and increased risk of malignancy, elevated α-fetoprotein; Ataxia-telangiectasia syndrome
Hereditary Neuropathy - complex v0.0 TRIP4 Bryony Thompson gene: TRIP4 was added
gene: TRIP4 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP4 were set to Spinal muscular atrophy with congenital bone fractures 1
Hereditary Neuropathy - complex v0.0 TECPR2 Bryony Thompson gene: TECPR2 was added
gene: TECPR2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive; HSAN/SFN
Hereditary Neuropathy - complex v0.0 TDP1 Bryony Thompson gene: TDP1 was added
gene: TDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDP1 were set to 31182267
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN
Hereditary Neuropathy - complex v0.0 RBM7 Bryony Thompson gene: RBM7 was added
gene: RBM7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: RBM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM7 were set to 27193168
Phenotypes for gene: RBM7 were set to SMA-like phenotype; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 PLP1 Bryony Thompson gene: PLP1 was added
gene: PLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN
Hereditary Neuropathy - complex v0.0 PEX12 Bryony Thompson gene: PEX12 was added
gene: PEX12 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX12 were set to 24627108
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; HMSN
Hereditary Neuropathy - complex v0.0 NIPA1 Bryony Thompson gene: NIPA1 was added
gene: NIPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to 21419568
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6
Hereditary Neuropathy - complex v0.0 IFRD1 Bryony Thompson gene: IFRD1 was added
gene: IFRD1 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFRD1 were set to 29362493; 19409521
Phenotypes for gene: IFRD1 were set to autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN
Hereditary Neuropathy - complex v0.0 HMBS Bryony Thompson gene: HMBS was added
gene: HMBS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HMBS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HMBS were set to Acute intermittent porphyria; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 HEXA Bryony Thompson gene: HEXA was added
gene: HEXA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Usually infantile-onset, developmental delay and cognitive decline, visual loss (‘cherry red spot’), motor>sensory neuronopathy, hypometric saccades, adult-onset (second decade) cases described; Tay-Sachs disease
Hereditary Neuropathy - complex v0.0 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Hereditary Neuropathy - complex v0.0 GSN Bryony Thompson gene: GSN was added
gene: GSN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type; HMSN
Hereditary Neuropathy - complex v0.0 GALC Bryony Thompson gene: GALC was added
gene: GALC was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Galactosylceramide beta-galactosidase deficiency; HMSN
Hereditary Neuropathy - complex v0.0 EXOSC8 Bryony Thompson gene: EXOSC8 was added
gene: EXOSC8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to dHMN/dSMA; Pontocerebellar hypoplasia, type 1c
Hereditary Neuropathy - complex v0.0 EXOSC3 Bryony Thompson gene: EXOSC3 was added
gene: EXOSC3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1b; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to HMSN; Cholestanol storage disease
Hereditary Neuropathy - complex v0.0 COX10 Bryony Thompson gene: COX10 was added
gene: COX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN
Hereditary Neuropathy - complex v0.0 CLP1 Bryony Thompson gene: CLP1 was added
gene: CLP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 TWNK Bryony Thompson gene: TWNK was added
gene: TWNK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TWNK were set to HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary Neuropathy - complex v0.0 ASCC1 Bryony Thompson gene: ASCC1 was added
gene: ASCC1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2
Hereditary Neuropathy - complex v0.0 ASAH1 Bryony Thompson gene: ASAH1 was added
gene: ASAH1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Spinal muscular atrophy with progressive myoclonic epilepsy; dHMN/dSMA
Hereditary Neuropathy - complex v0.0 ARL6IP1 Bryony Thompson gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6IP1 were set to HSAN/SFN; Childhood-onset spastic paraplegia with mutilating, sensory>motor axonal neuropathy
Hereditary Neuropathy - complex v0.0 ABCA1 Bryony Thompson gene: ABCA1 was added
gene: ABCA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA1 were set to HMSN; Tangier disease
Hereditary Neuropathy - complex v0.0 AAAS Bryony Thompson gene: AAAS was added
gene: AAAS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to HMSN; Glucocorticoid deficiency with achalasia
Hereditary Neuropathy - complex v0.0 SURF1 Bryony Thompson gene: SURF1 was added
gene: SURF1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to Leigh syndrome, due to COX IV deficiency, 256000; HMSN; Leigh syndrome (early onset progressive neurodegeneration of the brain stem, basal ganglia and spinal cord), neuropathy with SNCV
Hereditary Neuropathy - complex v0.0 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant; Spasticity; Hereditary Neuropathies
Hereditary Neuropathy - complex v0.0 SOX10 Bryony Thompson gene: SOX10 was added
gene: SOX10 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX10 were set to PCWH syndrome, 609136; Waardenburg syndrome, type 4C, 613266; Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; HMSN
Hereditary Neuropathy - complex v0.0 SLC52A3 Bryony Thompson gene: SLC52A3 was added
gene: SLC52A3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to dHMN; Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease
Hereditary Neuropathy - complex v0.0 SLC52A2 Bryony Thompson gene: SLC52A2 was added
gene: SLC52A2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Hereditary Neuropathy - complex v0.0 PNPLA6 Bryony Thompson gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia
Hereditary Neuropathy - complex v0.0 PNKP Bryony Thompson gene: PNKP was added
gene: PNKP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN
Hereditary Neuropathy - complex v0.0 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI
Hereditary Neuropathy - complex v0.0 PDK3 Bryony Thompson gene: PDK3 was added
gene: PDK3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Amber
Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: PDK3 were set to ?Charcot Marie Tooth disease, X linked dominant, 6, 300905; HMSN
Hereditary Neuropathy - complex v0.0 PDHA1 Bryony Thompson gene: PDHA1 was added
gene: PDHA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency; HMSN
Hereditary Neuropathy - complex v0.0 NTRK1 Bryony Thompson gene: NTRK1 was added
gene: NTRK1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Hereditary Neuropathy - complex v0.0 MYH14 Bryony Thompson gene: MYH14 was added
gene: MYH14 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN
Hereditary Neuropathy - complex v0.0 MCM3AP Bryony Thompson gene: MCM3AP was added
gene: MCM3AP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
Hereditary Neuropathy - complex v0.0 LYST Bryony Thompson gene: LYST was added
gene: LYST was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500
Hereditary Neuropathy - complex v0.0 KARS Bryony Thompson gene: KARS was added
gene: KARS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KARS were set to HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916
Hereditary Neuropathy - complex v0.0 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015; HMSN
Hereditary Neuropathy - complex v0.0 GJB3 Bryony Thompson gene: GJB3 was added
gene: GJB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: GJB3 was set to
Phenotypes for gene: GJB3 were set to HMSN; erythrokeratodermia variabilis, hearing impairment and peripheral neuropathy
Hereditary Neuropathy - complex v0.0 GBA2 Bryony Thompson gene: GBA2 was added
gene: GBA2 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409; SPG46, Spastic paraplegia, cognitive decline, thin corpus callosum, ataxia, cataracts, bulbar dysfunction, axonal sensory-motor neuropathy
Hereditary Neuropathy - complex v0.0 FAM126A Bryony Thompson gene: FAM126A was added
gene: FAM126A was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to HMSN; Congenital cataracts, global developmental delay from 1 year, diffuse cerebral hypomyelination on MRI, neuropathy with SNCV; Leukodystrophy, hypomyelinating, 5, 610532
Hereditary Neuropathy - complex v0.0 DCAF8 Bryony Thompson gene: DCAF8 was added
gene: DCAF8 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: DCAF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DCAF8 were set to ?Giant axonal neuropathy 2, autosomal dominant, 610100; HMSN
Hereditary Neuropathy - complex v0.0 CTDP1 Bryony Thompson gene: CTDP1 was added
gene: CTDP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTDP1 were set to Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN
Hereditary Neuropathy - complex v0.0 CNTNAP1 Bryony Thompson gene: CNTNAP1 was added
gene: CNTNAP1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, 618186
Hereditary Neuropathy - complex v0.0 CCT5 Bryony Thompson gene: CCT5 was added
gene: CCT5 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia, 256840; HMSN
Hereditary Neuropathy - complex v0.0 BAG3 Bryony Thompson gene: BAG3 was added
gene: BAG3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BAG3 were set to Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN
Hereditary Neuropathy - complex v0.0 APTX Bryony Thompson gene: APTX was added
gene: APTX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies
Hereditary Neuropathy - complex v0.0 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia; Neurodegeneration, childhood-onset, with cerebellar atrophy,612674; HMSN
Hereditary Neuropathy - complex v0.0 XK Bryony Thompson gene: XK was added
gene: XK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Hereditary Neuropathy - complex v0.0 TYMP Bryony Thompson gene: TYMP was added
gene: TYMP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type); HMSN
Hereditary Neuropathy - complex v0.0 TUBB3 Bryony Thompson gene: TUBB3 was added
gene: TUBB3 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TUBB3 were set to Fibrosis of extraocular muscles, congenital, 3A; HMSN
Hereditary Neuropathy - complex v0.0 TTR Bryony Thompson gene: TTR was added
gene: TTR was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TTR were set to Cardiomyopathy; Amyloidogenic transthyretin amyloidosis; HSAN/SFN
Hereditary Neuropathy - complex v0.0 SLC12A6 Bryony Thompson gene: SLC12A6 was added
gene: SLC12A6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; HMSN
Hereditary Neuropathy - complex v0.0 SETX Bryony Thompson gene: SETX was added
gene: SETX was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to dHMN/dSMA; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Hereditary Neuropathy - complex v0.0 SACS Bryony Thompson gene: SACS was added
gene: SACS was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type; HMSN
Hereditary Neuropathy - complex v0.0 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRNP were set to Prion diseases
Hereditary Neuropathy - complex v0.0 POLG Bryony Thompson gene: POLG was added
gene: POLG was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN
Hereditary Neuropathy - complex v0.0 PHYH Bryony Thompson gene: PHYH was added
gene: PHYH was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy - complex v0.0 PEX7 Bryony Thompson gene: PEX7 was added
gene: PEX7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Refsum disease; Phytanic acid storage disease
Hereditary Neuropathy - complex v0.0 OPA1 Bryony Thompson gene: OPA1 was added
gene: OPA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN
Hereditary Neuropathy - complex v0.0 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were set to Cardiomyopathy; HSAN/SFN; Fabry disease
Hereditary Neuropathy - complex v0.0 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to HMSN; Giant axonal neuropathy-1
Hereditary Neuropathy - complex v0.0 COA7 Bryony Thompson gene: COA7 was added
gene: COA7 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Cerebellar atrophy, leukoencephalopathy and spinal cord atrophy in some patients. Axonal sensory and motor neuropathy
Hereditary Neuropathy - complex v0.0 C12orf65 Bryony Thompson gene: C12orf65 was added
gene: C12orf65 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Spastic paraplegia 55, autosomal recessive, MIM#615035; HMSN
Hereditary Neuropathy - complex v0.0 AIFM1 Bryony Thompson gene: AIFM1 was added
gene: AIFM1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6; Cowchock syndrome; HMSN
Hereditary Neuropathy - complex v0.0 Bryony Thompson Added panel Hereditary Neuropathy - complex_RMH