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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 v0.274 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 v0.265 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 v0.251 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 v0.241 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 v0.237 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 v0.225 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 v0.220 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 v0.215 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 v0.205 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 v0.183 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 v0.171 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from HMSN; Spastic paraplegia 15 to Spastic paraplegia 15 MIM#270700
Hereditary Neuropathy - complex v0.166 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 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 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 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 v0.164 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 v0.151 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 v0.149 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 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 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 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 v0.147 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 v0.144 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 v0.142 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 v0.133 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 v0.120 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 v0.104 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 v0.101 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 v0.76 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 v0.67 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 v0.64 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 v0.63 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 v0.57 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 v0.53 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 v0.13 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 v0.4 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 v0.0 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 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 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 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 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 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 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 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 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 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 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 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 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 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