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| Leukodystrophy - paediatric v0.307 | NFE2L2 |
Bryony Thompson gene: NFE2L2 was added gene: NFE2L2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism Mode of pathogenicity for gene: NFE2L2 was set to Other Review for gene: NFE2L2 was set to GREEN gene: NFE2L2 was marked as current diagnostic Added comment: Paediatric-onset leukoencephalopathy is a feature of the condition. Sources: Literature |
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| Leukodystrophy - paediatric v0.301 | POLR1A | Zornitza Stark reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 27, MIM# 620675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.298 | SLC13A3 |
Daniel Flanagan gene: SLC13A3 was added gene: SLC13A3 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID) Phenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Review for gene: SLC13A3 was set to GREEN Added comment: Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay. Sources: Expert list |
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| Leukodystrophy - paediatric v0.298 | BORCS8 |
Lauren Rogers changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy. HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. Sources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy. HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. Sources: Literature |
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| Leukodystrophy - paediatric v0.298 | BORCS8 |
Lauren Rogers changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. Sources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy. HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. Sources: Literature |
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| Leukodystrophy - paediatric v0.298 | BORCS8 |
Lauren Rogers gene: BORCS8 was added gene: BORCS8 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS8 were set to 38128568 Phenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related Review for gene: BORCS8 was set to GREEN Added comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease. Sources: Literature |
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| Leukodystrophy - paediatric v0.297 | ELP1 |
Sarah Pantaleo gene: ELP1 was added gene: ELP1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to PMID: 36864284 Phenotypes for gene: ELP1 were set to neurodevelopmental disorder, MONDO:0700092, ELP1-related Added comment: “A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopment disorder”. The Elongator complex is suggested to play a role in NDDs, given that patient-derived mutations in its ELP2, ELP3, ELP4 and ELP6 subunits have been associated with these disorders. Pathogenic variants in ELP1 have been previously found in familial dysautonomia and medulloblastoma, with no link to NDDs affecting primarily the central nervous system. Clinical investigation included patient history and physical, neurological and MRI. A novel homozygous likely pathogenic ELP1 variant was identified by WGS (absent from gnomAD). Functional studies included in silico analysis of the mutated ELP1 in the context of the holo-complex, production and purification of the ELP1 harbouring the identified mutation and in vitro analyses. Report a novel missense mutation in the ELP1 identified in two siblings with ID and GDD (both less than 10 years old). The mutation is shown to perturb the ability of ELP123 to bind tRNAs and compromises the function of the Elongator in vitro and in human cells. Both sibling are non-verbal and had severe ID/GDD. MRI revealed white matter lesions with enlarged perivascular spaces, suggestive of an inflammatory reaction associate with demyelination. WGS identified c.2444A>C; p.(Lys815Thr), homozygous in both siblings. Consanguineous family. Parents heterozygous and asymptomatic. Carry out significant functional studies. Conclude that screening for ELP1 mutations “may be beneficial”. Sources: Literature |
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| Leukodystrophy - paediatric v0.297 | U2AF2 | Zornitza Stark Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.295 | AQP4 |
Zornitza Stark gene: AQP4 was added gene: AQP4 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AQP4 were set to 37143309 Phenotypes for gene: AQP4 were set to Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448 Review for gene: AQP4 was set to AMBER Added comment: Borderline Amber/Red. PMID: 37143309 Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit. Western blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression. Sources: Literature |
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| Leukodystrophy - paediatric v0.293 | GPRC5B |
Lucy Spencer gene: GPRC5B was added gene: GPRC5B was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GPRC5B were set to 37143309 Phenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447 Review for gene: GPRC5B was set to GREEN Added comment: PMID: 37143309 Cohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter. Patient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity. Sources: Literature |
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| Leukodystrophy - paediatric v0.293 | DENND5B | Zornitza Stark Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.290 | DENND5B |
Chirag Patel gene: DENND5B was added gene: DENND5B was added to Leukodystrophy - paediatric. Sources: Other Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies Review for gene: DENND5B was set to GREEN gene: DENND5B was marked as current diagnostic Added comment: ESHG 2023: 7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice) DD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7) DENND5B acts as: -GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release -regulator of lipid absorption and homeostasis Functional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution Sources: Other |
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| Leukodystrophy - paediatric v0.288 | ACTA2 |
Bryony Thompson gene: ACTA2 was added gene: ACTA2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA2 were set to 29300374 Phenotypes for gene: ACTA2 were set to multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Mode of pathogenicity for gene: ACTA2 was set to Other Review for gene: ACTA2 was set to GREEN gene: ACTA2 was marked as current diagnostic Added comment: Hyperintense periventricular white matter lesions were present in 95% (21/22) of smooth muscle dysfunction syndrome cases with missense variants involving Arg179. Age of diagnosis varied from infancy to adulthood. Sources: Literature |
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| Leukodystrophy - paediatric v0.286 | U2AF2 |
Paul De Fazio gene: U2AF2 was added gene: U2AF2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193 Phenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) Review for gene: U2AF2 was set to RED gene: U2AF2 was marked as current diagnostic Added comment: 4 patients with de novo missense variants reported, however only one report (PMID: 37134193) of hymomyelinating leukodystrophy. Sources: Literature |
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| Leukodystrophy - paediatric v0.286 | WARS | Zornitza Stark Phenotypes for gene: WARS were changed from Neurodevelopmental disorder (MONDO:0700092), WARS-related to Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.285 | WARS | Zornitza Stark reviewed gene: WARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder withmicrocephaly and speech delay, with or without brain abnormalities,MIM# 620317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.282 | POLR1A | Lucy Spencer reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 36917474; Phenotypes: Leukodystrophy MONDO:0019046, POLR1A related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.279 | HMBS | Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 27558376, 34089223; Phenotypes: Porphyria, acute intermittent, MIM#176000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.279 | Zornitza Stark List of related panels changed from to Leukodystrophy; HP:0002415; Abnormal cerebral white matter morphology; HP:0002500; Abnormal CNS myelination; HP:0011400 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.275 | TMEM163 |
Teresa Zhao gene: TMEM163 was added gene: TMEM163 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM163 were set to PMID: 35953447 Phenotypes for gene: TMEM163 were set to Hypomyelinating leukodystrophy Review for gene: TMEM163 was set to GREEN Added comment: Four unrelated with a hypomyelinating leukodystrophy phenotype. Genomic testing identified three distinct heterozygous missense variants in TMEM163 with two unrelated individuals sharing the same de novo variant. Sources: Literature |
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| Leukodystrophy - paediatric v0.275 | NOTCH1 |
Chern Lim gene: NOTCH1 was added gene: NOTCH1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to 35947102 Phenotypes for gene: NOTCH1 were set to Genetic cerebral small vessel disease (MONDO:0018787), NOTCH1-related Mode of pathogenicity for gene: NOTCH1 was set to Other Review for gene: NOTCH1 was set to GREEN gene: NOTCH1 was marked as current diagnostic Added comment: PMID: 35947102: - Seven unrelated patients with leukoencephalopathy and calcifications, germline heterozygous de novo gain-of-function variants in NOTCH1. - Other clinical features include intellectual disability, spasticity and etc. Childhood onset in most individuals however 15y and 40y reported in two individuals. - Missense and small inframe insertion variants in the negative regulatory region. Sources: Literature |
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| Leukodystrophy - paediatric v0.275 | Zornitza Stark HPO terms changed from to Leukodystrophy, HP:0002415; Abnormal cerebral white matter morphology, HP:0002500 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.273 | WARS |
Anna Ritchie gene: WARS was added gene: WARS was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: WARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WARS were set to PMID: 35815345 PMID: 35790048 Phenotypes for gene: WARS were set to Neurodevelopmental disorder (MONDO:0700092), WARS-related Review for gene: WARS was set to GREEN Added comment: Seven affected individuals from four families with biallelic variants, showing varying severities of developmental delay, intellectual disability and microcephaly. Hearing impairment and, as well as brain anomalies, skeletal system, movement/gait, and behaviour were variable features. Sources: Literature |
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| Leukodystrophy - paediatric v0.272 | ACOX1 | Alison Yeung Added comment: Comment on phenotypes: Mono-allelic variants (recurrent de novo missense, N237S) associated with Mitchell syndrome (MITCH): a progressive disorder characterised by episodic demyelination, sensorimotor polyneuropathy, and hearing loss. Bi-allelic variants cause a peroxisomal disorder characterised by neonatal hypotonia, seizures, apneic spells, delayed psychomotor development, and neurologic regression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.272 | ACOX1 | Alison Yeung Phenotypes for gene: ACOX1 were changed from Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470; Mitchell syndrome, MIM# 618960 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.271 | ACOX1 | Alison Yeung Mode of inheritance for gene: ACOX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.270 | MAL | Zornitza Stark Marked gene: MAL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.270 | MAL | Zornitza Stark Gene: mal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.270 | MAL | Zornitza Stark Classified gene: MAL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.270 | MAL | Zornitza Stark Gene: mal has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.269 | MAL |
Zornitza Stark gene: MAL was added gene: MAL was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAL were set to 35217805 Phenotypes for gene: MAL were set to Leukodystrophy MONDO:0019046, MAL-related Review for gene: MAL was set to AMBER Added comment: Single family with two affected siblings reported, with homozygous missense variant, some functional data. Sources: Literature |
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| Leukodystrophy - paediatric v0.267 | MAK |
Zornitza Stark gene: MAK was added gene: MAK was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: MAK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAK were set to 35217805 Phenotypes for gene: MAK were set to Leukodystrophy MONDO:0019046, MAL-related Review for gene: MAK was set to AMBER Added comment: Single family with two affected siblings reported, with homozygous missense variant, some functional data. Sources: Literature |
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| Leukodystrophy - paediatric v0.265 | FBP2 |
Zornitza Stark gene: FBP2 was added gene: FBP2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBP2 were set to 33977262 Phenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# 619864 Review for gene: FBP2 was set to AMBER Added comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging. Some functional data presented (in vitro). Sources: Expert list |
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| Leukodystrophy - paediatric v0.263 | NDUFV2 |
Michelle Torres gene: NDUFV2 was added gene: NDUFV2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229) Review for gene: NDUFV2 was set to GREEN Added comment: Three missense mutations were identified in 2 unrelated and nonconsanguineous families with progressive cavitating leukoencephalopathy. The 1st family (WGS) has 2 homozygous siblings with p.(Ala183Thr), and 2nd family (WES) has 2 cHet siblings with p.(Leu156His) and p.(C135Ser). Complex I deficiency was confirmed in affected individuals’ fibroblasts and a muscle biopsy. Functional and structural analyses revealed that these mutations affect the structural stability and function of the NDUFV2 protein. Sources: Literature |
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| Leukodystrophy - paediatric v0.262 | ENTPD1 |
Zornitza Stark gene: ENTPD1 was added gene: ENTPD1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ENTPD1 were set to 35471564 Phenotypes for gene: ENTPD1 were set to Spastic paraplegia 64, autosomal recessive, MIM# 615683 Review for gene: ENTPD1 was set to GREEN Added comment: 27 individuals from 17 families published, expanding the phenotype to a complex neurodevelopmental disorder characterised by ID, white matter abnormalities and spastic paraplegia. Sources: Literature |
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| Leukodystrophy - paediatric v0.260 | ATP11A | Zornitza Stark Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.259 | ATP11A | Zornitza Stark reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.257 | PYCR2 | Zornitza Stark reviewed gene: PYCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25865492, 27130255; Phenotypes: Leukodystrophy, hypomyelinating, 10, MIM# 616420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.256 | SLC35B2 |
Zornitza Stark gene: SLC35B2 was added gene: SLC35B2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35B2 were set to 35325049 Phenotypes for gene: SLC35B2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related Review for gene: SLC35B2 was set to AMBER Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. Sources: Literature |
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| Leukodystrophy - paediatric v0.253 | SLC35A2 |
Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: SLC35A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A2 were set to 35325049 Phenotypes for gene: SLC35A2 were set to Leukodystrophy, MONDO:0019046, SLC35B2-related Review for gene: SLC35A2 was set to AMBER Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy. Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein. Sources: Literature |
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| Leukodystrophy - paediatric v0.246 | ACER3 | Arina Puzriakova reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34281620; Phenotypes: Leukodystrophy, progressive, early childhood-onset, OMIM:617762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.244 | ABHD16A | Zornitza Stark Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; intellectual disability; callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.243 | ABHD16A | Zornitza Stark reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735, Intellectual Disability, Corpus callosum abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.242 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ABCC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC9 were set to 31575858 Phenotypes for gene: ABCC9 were set to Intellectual disability and myopathy syndrome, MIM# 619719 Review for gene: ABCC9 was set to AMBER Added comment: PMID 31575858: Report of 6 cases from 2 families, all with homozygous c.1320+1G>A. Phenotype of mild ID, similar facies, myopathy, cerebral white matter hyperintensities, and cardiac systolic dysfunction in the oldest cases. 'This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function'. Sources: Literature |
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| Leukodystrophy - paediatric v0.241 | RNF220 | Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.240 | RNF220 | Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.239 | ELOVL1 |
Zornitza Stark gene: ELOVL1 was added gene: ELOVL1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ELOVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELOVL1 were set to 29496980; 32123819; 30487246 Phenotypes for gene: ELOVL1 were set to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, MIM# 618527 Review for gene: ELOVL1 was set to GREEN Added comment: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic features (IKSHD) is characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity. Affected individuals have mild facial dysmorphism. Same two individuals reported in two publications. Both had the same variant, p.S165F, which arose de novo, suggesting the residue is important in pathogenesis. Mouse model. Sources: Literature |
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| Leukodystrophy - paediatric v0.236 | IFIH1 | Ain Roesley reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31898846; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.233 | ABHD16A |
Lucy Spencer changed review comment from: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls. In 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian. 4 missense variants, 1 frameshift, 1 nonsense. From PMID: 34587489 Sources: Literature; to: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls. In 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian. 4 missense variants, 1 frameshift, 1 nonsense. From PMID: 34587489 Sources: Literature |
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| Leukodystrophy - paediatric v0.233 | ABHD16A |
Lucy Spencer gene: ABHD16A was added gene: ABHD16A was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to PMID: 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia Review for gene: ABHD16A was set to GREEN Added comment: 11 individuals from 6 families with a complicated form of hereditary spastic paraplegia who carry bi-allelic deleterious variants in ABHD16A. Affected individuals present with a similar phenotype consisting of global developmental delay/intellectual disability, progressive spasticity affecting the upper and lower limbs, and corpus callosum and white matter anomalies. Immunoblot analysis on extracts from fibroblasts from four affected individuals demonstrated little to no ABHD16A protein levels compared to controls. In 5 of the families the affected members were homozygous, 3 of these families were consanguineous. 2 families have the same variant- both families are French-Canadian. 4 missense variants, 1 frameshift, 1 nonsense. From PMID: 34587489 Sources: Literature |
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| Leukodystrophy - paediatric v0.232 | ATP11A |
Elena Savva gene: ATP11A was added gene: ATP11A was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ATP11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP11A were set to PMID: 34403372 Phenotypes for gene: ATP11A were set to PMID: 34403372 Mode of pathogenicity for gene: ATP11A was set to Other Review for gene: ATP11A was set to AMBER Added comment: PMID: 34403372: - Single de novo missense variant reported in a patient with developmental delay and neurological deterioration. - Patient MRI showed severe cerebral atrophy, ventriculomegaly, hypomyelination leukodystrophy, thinned corpus callosum. Axonal neuropathy suggested. - K/I heterozygous mice died perinatally. - Functional studies on missense variant show plasma membrane lipid content impairment, reduced ATPase activity etc. gnomAD: some NMD PTCs present, good quality variants found with 4-5 hets. Sources: Literature |
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| Leukodystrophy - paediatric v0.231 | PI4KA |
Chirag Patel gene: PI4KA was added gene: PI4KA was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to PMID: 34415322 Phenotypes for gene: PI4KA were set to Neurodevelopmental syndrome with hypomyelinating leukodystrophy Review for gene: PI4KA was set to GREEN Added comment: Used WES/WGS to identify 10 unrelated patients harbouring biallelic variants in PI4KA, and a spectrum of severe global neurodevelopmental delay, hypomyelination, and developmental brain abnormalities, and pure spastic paraplegia. Some patients presented immunological deficits or genito-urinary abnormalities. Western blotting and immunofluorescence showed decreased PI4KA levels in the patients' fibroblasts. Immunofluorescence and targeted lipidomics indicated that PI4KA activity was diminished in fibroblasts and peripheral blood mononuclear cells. Sources: Literature |
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| Leukodystrophy - paediatric v0.229 | RNF220 |
Zornitza Stark gene: RNF220 was added gene: RNF220 was added to Leukodystrophy - paediatric. Sources: Literature founder tags were added to gene: RNF220. Mode of inheritance for gene: RNF220 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF220 were set to 33964137; 10881263 Phenotypes for gene: RNF220 were set to Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum Review for gene: RNF220 was set to GREEN Added comment: Sferra et al (2021 - PMID: 33964137) provide extensive evidence that biallelic RNF220 mutations cause a disorder characterized by hypomyelinating leukodystrophy, ataxia (9/9 - onset 1-5y), borderline intellectual functioning (3/9) / intellectual disability (5/9 - in most cases mild), sensorineural deafness (9/9) with complete hearing loss in the first decade of life, hepatopathy (9/9) with associated periportal fibrosis, and dilated cardiomyopathy (9/9) which was fatal. Other neurologic manifestations apart from ataxia incl. hyperreflexia (8/8), spastic paraplegia (9/9), dysarthria (9/9), peripheral neuropathy (4/9), seizures in one case (1/9). Upon brain MRI there was thin corpus callosum (9/9) or cerebellar atrophy in some (2/9). The authors identified homozygosity for 2 recurrent missense RNF220 variants in affected members belonging to these 5 broad consanguineous pedigrees (7 families), namely NM_018150.4:c.1094G>A / p.Arg365Gly in 4 Roma families in the context of a shared haplotype (/founder effect) as well as c.1088G>A / p.Arg363Gly in a large pedigree from southern Italy initially reported by Leuzzi et al (2000 - PMID: 10881263). Extensive segregation analyses were carried out including several affected and unaffected members. RNF220 encodes ring finger protein 220, which functions as an E3 ubiquitin ligase. Previous studies have shown among others a role in modulation of Sonic hedgehog/GLI signaling and cerebellar development Evidence for the role of RNF220 included relevant expression, localization within the cell, interaction partners (lamin B1, 20S proteasome), similarities with other laminopathies in terms of phenotype, etc : *RNF220 has a relevant expression pattern in CNS (based on qRT-PCR analyses in human brain, cerebellum, cerebral cortex / mRNA levels in human fetal CNS with higher expression in cerebellum, spinal cord and cortex / previous GTEx data / protein levels in mouse CNS) *The protein displays nuclear localization based on iPSC cells differentiated to motor neurons (also supported by data from the Human Protein Atlas). Transfection of COS-1 cells demonstrated localization primarily to the nucleus (as also previously demonstrated in HEK293T cells) in vesicle like structures with ASF2/SF2 colocalization suggesting enrichment in nuclear speckles. There was also partial co-distribution with the 20S proteasome. R363Q and R365Q additionally coalesced in the cytoplasm forming protein aggregates/inclusions. *Immunofluorescence studies in patient fibroblasts also confirmed abnormal increase of the protein in the cytoplasm and increased fluorescence with the 20S proteasome. *Proteomic identification of RNF220-interacting proteins in transfected HEK293T cells demonstrated enrichment for all members of the lamin protein family (incl . lamin B1, AC, B2). *RNAi-mediated downregulation of RNF222 in Drosophila suggested altered subcellular localization and accumulation of the fly orthologue for human lamin B1. *Immunoprecipitation of lamin B1 from the nuclear matrix of cerebellar cells suggested significant interaction of endogenous lamin B1 with RNF220, while transfection studies in HEK293T cells for wt/mt suggested reduced binding to endogenous lamin B1 for RNF220 mt compared to wt (more prominent for R365Q). RNF220 mutants also reduced ubiquitination of nuclear lamin B1 compared to wt. *Patient fibroblasts immunostained with different nuclear envelope markers displayed abnormal nuclear shapes with multiple invaginations and lobulations, findings also observed in laminopathies. Sources: Literature |
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| Leukodystrophy - paediatric v0.227 | COLGALT1 |
Bryony Thompson gene: COLGALT1 was added gene: COLGALT1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLGALT1 were set to 30412317; 33709034; 31759980 Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3 MIM#618360 Review for gene: COLGALT1 was set to GREEN Added comment: 3 unrelated cases with biallelic variants, and supporting functional assays. The main features of the cases were porencephalic cysts, leukoencephalopathy (paediatric onset), lacunar infarcts, cerebral microbleeds/haemorrhages and calcifications. Sources: Literature |
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| Leukodystrophy - paediatric v0.225 | C2orf69 |
Zornitza Stark gene: C2orf69 was added gene: C2orf69 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 34038740; 33945503 Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Review for gene: C2orf69 was set to GREEN Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model. PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures. Sources: Literature |
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| Leukodystrophy - paediatric v0.223 | PPP1R21 |
Zornitza Stark gene: PPP1R21 was added gene: PPP1R21 was added to Leukodystrophy - paediatric. Sources: Expert Review Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R21 were set to 30520571 Phenotypes for gene: PPP1R21 were set to Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities, MIM# 619383; Hypotonia; intellectual disability; white matter abnormalities Review for gene: PPP1R21 was set to GREEN Added comment: At least four unrelated families reported. Sources: Expert Review |
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| Leukodystrophy - paediatric v0.222 | RAB11B | Zornitza Stark reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.221 | CLDN11 | Zornitza Stark reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomyelinating leukodystrophy-22, MIM#619328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.221 | LSM7 |
Zornitza Stark gene: LSM7 was added gene: LSM7 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: LSM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034 Phenotypes for gene: LSM7 were set to Leukodystrophy; fetal death Review for gene: LSM7 was set to RED Added comment: Homozygous variant (p.Asp41Asn) identified in a child with leukodystrophy and a homozygous variant (p.Arg69Pro) identified in an individual that died in utero. In vitro and in vivo (zebrafish) assays supporting pathogenicity of the 2 variants. Sources: Literature |
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| Leukodystrophy - paediatric v0.219 | POLR3K |
Zornitza Stark gene: POLR3K was added gene: POLR3K was added to Leukodystrophy - paediatric. Sources: Expert Review Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310 Review for gene: POLR3K was set to AMBER Added comment: Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. Sources: Expert Review |
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| Leukodystrophy - paediatric v0.217 | LIG3 |
Zornitza Stark gene: LIG3 was added gene: LIG3 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG3 were set to 33855352 Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy Review for gene: LIG3 was set to GREEN Added comment: Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence. Sources: Literature |
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| Leukodystrophy - paediatric v0.215 | CLDN11 |
Melanie Marty gene: CLDN11 was added gene: CLDN11 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy Review for gene: CLDN11 was set to GREEN Added comment: In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein. Sources: Literature |
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| Leukodystrophy - paediatric v0.213 | KARS | Zornitza Stark Phenotypes for gene: KARS were changed from Deafness, autosomal recessive 89, MIM# 613916; Leukodystrophy to Leukoencephalopathy with or without deafness (LEPID), MIM#619147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.212 | KARS | Zornitza Stark reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.211 | EIF2AK2 |
Zornitza Stark gene: EIF2AK2 was added gene: EIF2AK2 was added to Leukodystrophy - paediatric. Sources: Expert Review Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness Review for gene: EIF2AK2 was set to GREEN Added comment: Two additional individuals reported in DOI: https://doi.org/10.1212/NXG.0000000000000539 to add to previous 8. Complex neurological phenotype includes white matter abnormalities, described as Pelizaeus-Merzbacher-like. Sources: Expert Review |
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| Leukodystrophy - paediatric v0.210 | KARS | Zornitza Stark Phenotypes for gene: KARS were changed from deafness and leukodystrophy to Deafness, autosomal recessive 89, MIM# 613916; Leukodystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.208 | KARS |
Lilian Downie gene: KARS was added gene: KARS was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 30737337; 31116475; 30715177 Phenotypes for gene: KARS were set to deafness and leukodystrophy Review for gene: KARS was set to GREEN Added comment: Sources: Expert list |
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| Leukodystrophy - paediatric v0.207 | CNP | Zornitza Stark reviewed gene: CNP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 20, MIM# 619071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.206 | ACER3 |
Zornitza Stark gene: ACER3 was added gene: ACER3 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACER3 were set to 32816236; 26792856 Phenotypes for gene: ACER3 were set to Leukodystrophy Review for gene: ACER3 was set to AMBER Added comment: Two families reported with bi-allelic variants, and paediatric onset progressive leukodystorphy. Functional data demonstrating ACER3 deficiency. Sources: Literature |
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| Leukodystrophy - paediatric v0.204 | HPDL |
Zornitza Stark gene: HPDL was added gene: HPDL was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPDL were set to 32707086 Phenotypes for gene: HPDL were set to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome Review for gene: HPDL was set to GREEN Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Extensive MRI abnormalities described, primarily affecting white matter (white matter atrophy and deficient myelination), basal ganglia, thalamus and brainstem. Sources: Literature |
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| Leukodystrophy - paediatric v0.201 | IBA57 | Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.201 | IBA57 | Teresa Zhao reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 27785568, 28671726; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.200 | VPS11 | Zornitza Stark reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.199 | WARS2 | Zornitza Stark reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31282308, 28650581, 30920170; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.197 | TWNK |
Zornitza Stark gene: TWNK was added gene: TWNK was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to 31455269; 19353676 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 Review for gene: TWNK was set to AMBER Added comment: Two reports of white matter changes: one in a woman diagnosed with PEO and mono-allelic variant and an infant diagnosed with mitochondrial depletion syndrome and bi-allelic variants. Sources: Expert list |
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| Leukodystrophy - paediatric v0.194 | TUFM | Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.194 | SDHA | Zornitza Stark reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22972948; Phenotypes: Mitochondrial respiratory chain complex II deficiency, MIM#252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.194 | PC | Zornitza Stark reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.193 | PAFAH1B1 |
Zornitza Stark gene: PAFAH1B1 was added gene: PAFAH1B1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAFAH1B1 were set to 31370080; 30568308; 20301752 Phenotypes for gene: PAFAH1B1 were set to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830 Review for gene: PAFAH1B1 was set to GREEN Added comment: White matter abnormalities are part of the phenotype. Sources: Expert list |
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| Leukodystrophy - paediatric v0.191 | NFU1 | Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.190 | NAXE | Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.188 | MEF2C |
Zornitza Stark gene: MEF2C was added gene: MEF2C was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEF2C were set to 27255693; 20333642 Phenotypes for gene: MEF2C were set to Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, MIM# 613443 Review for gene: MEF2C was set to GREEN Added comment: Delayed myelination and periventricular white matter hyperintensities reported in this syndrome. Sources: Expert list |
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| Leukodystrophy - paediatric v0.186 | KIF5A | Zornitza Stark reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27463701, 27414745; Phenotypes: Myoclonus, intractable, neonatal, MIM# 617235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.185 | ISCA2 | Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.184 | HSPD1 | Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.183 | HSPD1 | Zornitza Stark reviewed gene: HSPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571143, 27405012, 32532876, 28377887, 27405012; Phenotypes: Leukodystrophy, hypomyelinating, 4, MIM# 612233; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.182 | HMGCL | Zornitza Stark reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11461194; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.181 | FA2H | Zornitza Stark reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31837835, 30446360, 22965561, 21592092; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM# 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.179 | CNTNAP1 | Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29882456; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM# 618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.179 | CLPP | Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 27899912; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.178 | BOLA3 | Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.176 | AIFM1 | Zornitza Stark reviewed gene: AIFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28842795, 27102849; Phenotypes: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.175 | ABCD1 |
Zornitza Stark gene: ABCD1 was added gene: ABCD1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM# 300100 Review for gene: ABCD1 was set to GREEN Added comment: Well established gene-disease association, variable age of onset from childhood to adulthood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.172 | SLC16A2 | Zornitza Stark Mode of inheritance for gene: SLC16A2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.171 | SLC16A2 | Zornitza Stark reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15980113, 31410843, 20301789; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.170 | AARS | Zornitza Stark reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.169 | NAXD |
Zornitza Stark gene: NAXD was added gene: NAXD was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAXD were set to 32462209 Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, 618321 Review for gene: NAXD was set to GREEN Added comment: Variable phenotype: one patient reported with neurodevelopmental disorder, autism spectrum disorder and a muscular-dystrophy-like myopathy; another with progressive encephalopathy with brain oedema. Sources: Expert list |
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| Leukodystrophy - paediatric v0.167 | LAMB1 |
Zornitza Stark gene: LAMB1 was added gene: LAMB1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB1 were set to 29888467; 25925986 Phenotypes for gene: LAMB1 were set to Cystic leukoencephalopathy Review for gene: LAMB1 was set to AMBER Added comment: Two unrelated families reported with cystic leukoencephalopathy and bi-allelic variants in this gene. Also note adult-onset leukodystrophy reported in one individual. Sources: Literature |
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| Leukodystrophy - paediatric v0.165 | GLRX5 |
Elena Savva gene: GLRX5 was added gene: GLRX5 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: GLRX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLRX5 were set to PMID: 24334290; 30770271 Phenotypes for gene: GLRX5 were set to Spasticity, childhood-onset, with hyperglycinemia 616859 Review for gene: GLRX5 was set to GREEN Added comment: PMID: 24334290 - 3 patients (3 families) with non-ketotic hyperglycinemia, supported by functional studies. Patients had normal development with childhood-onset spastic paraplegia (3/3), spinal lesion (1/3), optic atrophy (1/3) and brain signal abnormalities involving the frontal and parietal white matter (2/3) PMID: 30770271 - 1 patient with childhood onset cavitating leukoencephalopathy. p.Lys51del is a recurring mutation. Sources: Literature |
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| Leukodystrophy - paediatric v0.163 | RNASEH2A |
Zornitza Stark gene: RNASEH2A was added gene: RNASEH2A was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2A were set to 16845400; 23592335; 17846997 Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, MIM# 610333 Review for gene: RNASEH2A was set to GREEN Added comment: Leukodystrophy is a common feature, onset is typically in infancy. Sources: Expert list |
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| Leukodystrophy - paediatric v0.161 | RNASEH2B |
Zornitza Stark gene: RNASEH2B was added gene: RNASEH2B was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to 16845400 Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM# 610181 Review for gene: RNASEH2B was set to GREEN Added comment: Leukodystrophy is common in AGS in general, though basal ganglia calcification seems to predominate here. Sources: Expert list |
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| Leukodystrophy - paediatric v0.159 | RNASEH2C |
Zornitza Stark gene: RNASEH2C was added gene: RNASEH2C was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2C were set to 16845400; 23322642 Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, MIM# 610329 Review for gene: RNASEH2C was set to GREEN Added comment: Leukodystrophy is a prominent feature, onset is typically in infancy. Sources: Expert list |
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| Leukodystrophy - paediatric v0.157 | RNASET2 |
Zornitza Stark gene: RNASET2 was added gene: RNASET2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASET2 were set to 19525954 Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951 Review for gene: RNASET2 was set to GREEN Added comment: 5 unrelated families in the original publication. Sources: Expert list |
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| Leukodystrophy - paediatric v0.154 | SAMHD1 |
Zornitza Stark gene: SAMHD1 was added gene: SAMHD1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, MIM# 612952 Review for gene: SAMHD1 was set to GREEN Added comment: Leukodystrophy is a prominent feature, onset is variable but typically in infancy/childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.152 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to 16417876 Phenotypes for gene: SLC17A5 were set to Salla disease 604369; Sialic acid storage disorder, infantile 269920 Review for gene: SLC17A5 was set to GREEN Added comment: White matter abnormalities described in this metabolic disorder. Sources: Expert list |
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| Leukodystrophy - paediatric v0.150 | SPG11 | Zornitza Stark edited their review of gene: SPG11: Changed publications: 18067136; Changed phenotypes: Spastic paraplegia 11, autosomal recessive, MIM# 604360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.149 | SPG11 |
Zornitza Stark gene: SPG11 was added gene: SPG11 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM# 604360 Review for gene: SPG11 was set to GREEN Added comment: Complex SPG with central involvement, including white matter changes. Sources: Expert list |
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| Leukodystrophy - paediatric v0.147 | TREX1 |
Zornitza Stark gene: TREX1 was added gene: TREX1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Review for gene: TREX1 was set to GREEN Added comment: White matter changes are part of the phenotype. Onset is typically in infancy/childhood but can be variable. Sources: Expert list |
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| Leukodystrophy - paediatric v0.145 | TUBB4A |
Zornitza Stark gene: TUBB4A was added gene: TUBB4A was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB4A were set to 24850488; 23582646 Phenotypes for gene: TUBB4A were set to Leukodystrophy, hypomyelinating, 6, MIM# 612438 Review for gene: TUBB4A was set to GREEN Added comment: Multiple individuals reported, onset of symptoms is typically in infancy and early childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.143 | ZFYVE26 |
Zornitza Stark gene: ZFYVE26 was added gene: ZFYVE26 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, MIM# 270700 Review for gene: ZFYVE26 was set to GREEN Added comment: Complex spastic paraplegia, including white matter changes. Variable age of onset ranging from paediatric to adult. Sources: Expert list |
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| Leukodystrophy - paediatric v0.141 | PSAP |
Zornitza Stark gene: PSAP was added gene: PSAP was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900 Review for gene: PSAP was set to GREEN Added comment: Childhood onset. Sources: Expert list |
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| Leukodystrophy - paediatric v0.139 | POLR3B |
Zornitza Stark gene: POLR3B was added gene: POLR3B was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3B were set to 27512013; 22036171; 22036172 Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Review for gene: POLR3B was set to GREEN Added comment: More than 10 families reported. Early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism. Sources: Expert list |
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| Leukodystrophy - paediatric v0.137 | POLR3A |
Zornitza Stark gene: POLR3A was added gene: POLR3A was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 21855841 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694 Review for gene: POLR3A was set to GREEN Added comment: More than 10 families reported. Neurodegenerative disorder characterised by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. Sources: Expert list |
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| Leukodystrophy - paediatric v0.134 | POLR1C |
Zornitza Stark gene: POLR1C was added gene: POLR1C was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR1C were set to 26151409 Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11, MIM# 616494 Review for gene: POLR1C was set to GREEN Added comment: Over 20 individuals reported. Sources: Expert list |
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| Leukodystrophy - paediatric v0.132 | FDX2 |
Bryony Thompson gene: FDX2 was added gene: FDX2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: FDX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDX2 were set to 30010796 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: Two apparently unrelated consanguineous Brazilian families reported with reversible leukoencephalopathy with a paediatric onset as a feature of the condition. Sources: Expert list |
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| Leukodystrophy - paediatric v0.130 | COA7 |
Bryony Thompson gene: COA7 was added gene: COA7 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Review for gene: COA7 was set to GREEN Added comment: At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Sources: Expert list |
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| Leukodystrophy - paediatric v0.128 | AP4B1 |
Bryony Thompson gene: AP4B1 was added gene: AP4B1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 29193663 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive MIM#614066 Review for gene: AP4B1 was set to GREEN Added comment: White matter changes have been reported as a feature of the condition in at least ten unrelated cases with biallelic variants. The onset of the condition is paediatric. Sources: Expert list |
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| Leukodystrophy - paediatric v0.126 | CNP |
Kristin Rigbye gene: CNP was added gene: CNP was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNP were set to 32128616; 12590258 Phenotypes for gene: CNP were set to Hypomyelinating leukodystrophy Review for gene: CNP was set to AMBER Added comment: Single consanguineous family described with homozygous missense in affected child (additional two affected deceased offspring unavailable for testing; healthy carrier parents and sibling). Loss of protein by Western blot and defect in F-actin structure and organization observed in patient fibroblasts. Deficiency of CNP in mouse has previously been shown to cause a lethal white matter neurodegenerative phenotype (PMID: 12590258), similar to the phenotype observed in this family. Sources: Literature |
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| Leukodystrophy - paediatric v0.125 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662 Review for gene: POLG was set to GREEN Added comment: Variable age of onset, including in infancy. White matter changes in some. Sources: Expert list |
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| Leukodystrophy - paediatric v0.123 | PLP1 |
Zornitza Stark gene: PLP1 was added gene: PLP1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, MIM# 312080 Review for gene: PLP1 was set to GREEN Added comment: Hypomyelinative leukodystrophy, typical onset in infancy. Sources: Expert list |
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| Leukodystrophy - paediatric v0.121 | MLC1 |
Zornitza Stark gene: MLC1 was added gene: MLC1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 11254442; 21419380; 21624973 Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, MIM# 604004 Review for gene: MLC1 was set to GREEN Added comment: Childhood onset, progressive MRI changes. Sources: Expert list |
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| Leukodystrophy - paediatric v0.119 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 10973263; 11030752 Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, MIM# 252650 Review for gene: MCOLN1 was set to GREEN Added comment: Sources: Expert list |
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| Leukodystrophy - paediatric v0.117 | TOMM70 |
Zornitza Stark gene: TOMM70 was added gene: TOMM70 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: TOMM70 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TOMM70 were set to 32356556 Phenotypes for gene: TOMM70 were set to White matter abnormalities; Developmental delay; Regression; Movement disorder Review for gene: TOMM70 was set to AMBER Added comment: De novo mono allelic variants in the C-terminal region of TOMM70 reported in two individuals. While both individuals exhibited shared symptoms including hypotonia, hyperreflexia, ataxia, dystonia, and significant white matter abnormalities, there were differences between the two individuals, most prominently the age of symptom onset, with one experiencing episodes of regression. Some functional data. Note bi-allelic disease also reported in one individual, with features of a mitochondrial disorder. Sources: Literature |
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| Leukodystrophy - paediatric v0.115 | L2HGDH |
Zornitza Stark gene: L2HGDH was added gene: L2HGDH was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, MIM# 236792 Review for gene: L2HGDH was set to GREEN Added comment: Age of onset is variable, but typically in infancy/childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.113 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HEXA were set to Tay-Sachs disease, MIM# 272800 Review for gene: HEXA was set to GREEN Added comment: Sources: Expert list |
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| Leukodystrophy - paediatric v0.111 | HEPACAM |
Zornitza Stark gene: HEPACAM was added gene: HEPACAM was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: HEPACAM were set to 21419380; 21419380 Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM# 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM# 613926 Review for gene: HEPACAM was set to GREEN Added comment: Multiple families reported with both mono-allelic and bi-allelic disease; bi-allelic disease is generally more severe. Onset is typically in infancy. Sources: Expert list |
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| Leukodystrophy - paediatric v0.109 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLB1 were set to 25691190 Phenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, MIM# 230500; GM1-gangliosidosis, type II, MIM# 230600 Review for gene: GLB1 was set to GREEN Added comment: Sources: Expert list |
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| Leukodystrophy - paediatric v0.107 | GJC2 |
Zornitza Stark gene: GJC2 was added gene: GJC2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GJC2 were set to 22669416; 24374284; 15192806 Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM# 608804 Review for gene: GJC2 was set to GREEN Added comment: Multiple affected families reported, onset is typically in infancy. Sources: Expert list |
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| Leukodystrophy - paediatric v0.105 | GFAP |
Zornitza Stark gene: GFAP was added gene: GFAP was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GFAP were set to Alexander disease, MIM# 203450 Review for gene: GFAP was set to GREEN Added comment: 3 forms of Alexander disease are recognised, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. Sources: Expert list |
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| Leukodystrophy - paediatric v0.103 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200 Review for gene: GALC was set to GREEN Added comment: Typically presents in infancy, though later onset in childhood, adolescence and adulthood described. Sources: Expert list |
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| Leukodystrophy - paediatric v0.101 | EPRS |
Zornitza Stark gene: EPRS was added gene: EPRS was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPRS were set to 29576217 Phenotypes for gene: EPRS were set to Leukodystrophy, hypomyelinating, 15, MIM# 617951 Review for gene: EPRS was set to GREEN Added comment: Four unrelated families reported with this neurodegenerative disorder. Onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, dysphagia, severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. Sources: Expert list |
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| Leukodystrophy - paediatric v0.99 | EIF2B5 |
Zornitza Stark gene: EIF2B5 was added gene: EIF2B5 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896 Review for gene: EIF2B5 was set to GREEN Added comment: Age of onset can vary from infancy to adulthood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.97 | EIF2B4 |
Zornitza Stark gene: EIF2B4 was added gene: EIF2B4 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B4 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896 Review for gene: EIF2B4 was set to GREEN Added comment: Onset can vary from infancy to adulthood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.95 | EIF2B3 |
Zornitza Stark gene: EIF2B3 was added gene: EIF2B3 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896 Review for gene: EIF2B3 was set to GREEN Added comment: Age of onset can vary from infancy to adulthood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.93 | EIF2B2 |
Zornitza Stark gene: EIF2B2 was added gene: EIF2B2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896 Review for gene: EIF2B2 was set to GREEN Added comment: Age of onset can vary from infancy to adulthood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.91 | EIF2B1 |
Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, MIM# 603896 Review for gene: EIF2B1 was set to GREEN Added comment: Age of onset can vary from infancy to adulthood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.89 | EARS2 |
Zornitza Stark gene: EARS2 was added gene: EARS2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EARS2 were set to 22492562; 23008233; 25854774; 26619324; 26893310 Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, MIM# 614924; Leukoencephalopathy with thalamus and brainstem involvement and high lactate Review for gene: EARS2 was set to GREEN Added comment: Multiple families reported, onset typically in infancy/childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.87 | DARS2 |
Zornitza Stark gene: DARS2 was added gene: DARS2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS2 were set to 17384640; 15002045; 16788019 Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105 Review for gene: DARS2 was set to GREEN Added comment: Slowly progressive disorder with variable age of onset, but onset of symptoms reported in childhood in many. Sources: Expert list |
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| Leukodystrophy - paediatric v0.85 | DARS |
Zornitza Stark gene: DARS was added gene: DARS was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DARS were set to 23643384 Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281 Review for gene: DARS was set to GREEN Added comment: Onset typically in infancy with lower limb spasticity. Brain MRI shows extensive white matter abnormalities involving the supratentorial white matter, brainstem, cerebellar peduncles, and dorsal columns and lateral corticospinal tracts of the spinal cord. HGNC approved name DARS1. Sources: Expert list |
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| Leukodystrophy - paediatric v0.83 | CLCN2 |
Zornitza Stark gene: CLCN2 was added gene: CLCN2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLCN2 were set to 23707145 Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, MIM# 615651 Review for gene: CLCN2 was set to GREEN Added comment: At least six families reported, three with adult onset and three with childhood onset. Sources: Expert list |
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| Leukodystrophy - paediatric v0.81 | ASPA |
Zornitza Stark gene: ASPA was added gene: ASPA was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPA were set to Canavan disease, MIM# 271900 Review for gene: ASPA was set to GREEN Added comment: Congenital, infantile, and late-onset forms of Canavan disease reported. Sources: Expert list |
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| Leukodystrophy - paediatric v0.79 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM# 250100 Review for gene: ARSA was set to GREEN Added comment: More severe forms present in infancy/childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.77 | ALDH3A2 |
Zornitza Stark gene: ALDH3A2 was added gene: ALDH3A2 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, MIM# 270200 Review for gene: ALDH3A2 was set to GREEN Added comment: Onset of signs and symptoms is typically in infancy, though white matter changes become more pronounced with age. Sources: Expert list |
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| Leukodystrophy - paediatric v0.75 | ADAR |
Zornitza Stark gene: ADAR was added gene: ADAR was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010 Review for gene: ADAR was set to GREEN Added comment: White matter changes reported in some. Sources: Expert list |
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| Leukodystrophy - paediatric v0.73 | CYP7B1 |
Zornitza Stark gene: CYP7B1 was added gene: CYP7B1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 24117163; 19439420; 19187859 Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, MIM# 270800 Review for gene: CYP7B1 was set to GREEN Added comment: White matter lesions have been reported as a feature of the condition in >3 cases. Age of onset highly variable, generally in adolescence but onset in early childhood reported. Sources: Expert list |
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| Leukodystrophy - paediatric v0.71 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC1 were set to 26910362; 29406968 Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/D, MIM# 257220 Review for gene: NPC1 was set to GREEN Added comment: Age of onset/severity highly variable. Sources: Expert list |
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| Leukodystrophy - paediatric v0.69 | RPIA |
Zornitza Stark gene: RPIA was added gene: RPIA was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 31247379; 14988808; 31056085 Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611 Review for gene: RPIA was set to GREEN Added comment: Four unrelated individuals described to date, variable onset of leukodystrophy in childhood/adolescence, though other symptoms generally precede. Sources: Expert list |
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| Leukodystrophy - paediatric v0.67 | SNORD118 |
Zornitza Stark gene: SNORD118 was added gene: SNORD118 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNORD118 were set to 27571260 Phenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts 614561 Added comment: Over 30 families reported, age at presentation ranged between infancy and 54 years. Sources: Expert list |
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| Leukodystrophy - paediatric v0.65 | DCAF17 |
Zornitza Stark gene: DCAF17 was added gene: DCAF17 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCAF17 were set to 19026396; 20507343 Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, MIM# 241080 Review for gene: DCAF17 was set to GREEN Added comment: White matter changes are part of the phenotype. Sources: Expert list |
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| Leukodystrophy - paediatric v0.63 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 29720545; 29152901; 30664625 Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350 Review for gene: PTEN was set to GREEN Added comment: White matter changes described in many individuals. Sources: Expert list |
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| Leukodystrophy - paediatric v0.61 | CTC1 |
Zornitza Stark gene: CTC1 was added gene: CTC1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTC1 were set to 22267198; 22387016 Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Review for gene: CTC1 was set to GREEN Added comment: Onset typically in infancy/childhood with intracranial calcifications, leukoencephalopathy, and early-onset retinal changes, associated with extra-neurologic manifestations including early-onset bone fractures, gastrointestinal ectasia, and variable hair, nail, and skin changes, and/or anemia. Sources: Expert list |
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| Leukodystrophy - paediatric v0.59 | AUH |
Zornitza Stark gene: AUH was added gene: AUH was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM# 250950 Review for gene: AUH was set to GREEN Added comment: Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels. Sources: Expert list |
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| Leukodystrophy - paediatric v0.57 | APOPT1 |
Zornitza Stark gene: APOPT1 was added gene: APOPT1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOPT1 were set to 25175347 Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, MIM# 220110 Review for gene: APOPT1 was set to GREEN Added comment: Cavitating leukodystrophy reported as part of this mitochondrial disorder, onset described as late infancy/early childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.53 | ISCA1 |
Bryony Thompson gene: ISCA1 was added gene: ISCA1 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCA1 were set to Multiple mitochondrial dysfunctions syndrome 5 MIM#617613 |
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| Leukodystrophy - paediatric v0.49 | TMEM106B | Ain Roesley reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29186371, 29444210, 28728022, 30643851; Phenotypes: Leukodystrophy, hypomyelinating, 16, (MIM #617964); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.48 | UFM1 |
Bryony Thompson gene: UFM1 was added gene: UFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to 29868776 Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14 617899 Added comment: Homozygous missense segregates in 2 consanguineous Sudanese families, and a Roma founder muation found to cause hypomyelinating leukodystrophy. Sources: Expert list |
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| Leukodystrophy - paediatric v0.46 | TMEM63A |
Bryony Thompson gene: TMEM63A was added gene: TMEM63A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Review for gene: TMEM63A was set to GREEN Added comment: 4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants. Sources: Expert list |
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| Leukodystrophy - paediatric v0.45 | STX11 |
Bryony Thompson gene: STX11 was added gene: STX11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552 Review for gene: STX11 was set to RED Added comment: It is unclear whether leukodystrophy is a feature of the condition. There are no reports of the gene associated with white matter changes. Sources: Expert list |
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| Leukodystrophy - paediatric v0.43 | SPART |
Bryony Thompson gene: SPART was added gene: SPART was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to 28875386; 15372254 Phenotypes for gene: SPART were set to Troyer syndrome 275900 Review for gene: SPART was set to GREEN Added comment: White matter abnormalities reported in at least 3 unrelated families, including the original Amish family where the condition was first described. Sources: Expert list |
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| Leukodystrophy - paediatric v0.42 | SLC25A1 |
Bryony Thompson gene: SLC25A1 was added gene: SLC25A1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 29226520 Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria 615182 Review for gene: SLC25A1 was set to RED Added comment: Five infants of two consanguineous Bedouin families of the same tribe homozygous for the same variant with EEG compatible with white matter disorder. Death usually occurs in childhood. Sources: Expert list |
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| Leukodystrophy - paediatric v0.40 | SLC13A5 |
Bryony Thompson gene: SLC13A5 was added gene: SLC13A5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 27913086 Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25 615905 Review for gene: SLC13A5 was set to AMBER Added comment: Six out of seven infants with punctate white matter lesions, which were no longer visible at the age of 6 months. Sources: Expert list |
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| Leukodystrophy - paediatric v0.38 | RAB11B |
Bryony Thompson gene: RAB11B was added gene: RAB11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAB11B were set to 29106825 Phenotypes for gene: RAB11B were set to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 617807 Review for gene: RAB11B was set to GREEN Added comment: 5 unrelated cases with de novo variants and brain imaging, performed in 4 patients, showed white matter abnormalities. Sources: Expert list |
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| Leukodystrophy - paediatric v0.37 | PSAT1 |
Bryony Thompson gene: PSAT1 was added gene: PSAT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2 616038; ?Phosphoserine aminotransferase deficiency 610992 Review for gene: PSAT1 was set to RED Added comment: Neu-Laxova syndrome is a congenital lethal condition. Poor white matter development reported in one family with possible PSAT1 deficiency. Sources: Expert list |
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| Leukodystrophy - paediatric v0.36 | PRF1 |
Bryony Thompson gene: PRF1 was added gene: PRF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRF1 were set to 23443029; 21959744 Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2 603553 Review for gene: PRF1 was set to RED Added comment: Leukodystrophy does not appear to be a prominent feature of the condition Sources: Expert list |
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| Leukodystrophy - paediatric v0.34 | PPT1 |
Bryony Thompson gene: PPT1 was added gene: PPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPT1 were set to 5706364; 8576553 Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730 Review for gene: PPT1 was set to AMBER Added comment: White matter changes have been reported in neuronal ceroid lipofuscinosis, but not reported in association with this gene. Sources: Expert list |
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| Leukodystrophy - paediatric v0.33 | POLR1A |
Bryony Thompson gene: POLR1A was added gene: POLR1A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: POLR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR1A were set to 28051070 Phenotypes for gene: POLR1A were set to ataxia; psychomotor retardation; cerebellar and cerebral atrophy; leukodystrophy Review for gene: POLR1A was set to RED Added comment: 2 brothers in a single consanguineous family with neurological disease including leukodystrophy with a homozygous variant. Reduced protein expression in patient cells. Sources: Expert list |
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| Leukodystrophy - paediatric v0.31 | PLEKHG2 |
Bryony Thompson gene: PLEKHG2 was added gene: PLEKHG2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PLEKHG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEKHG2 were set to 26573021 Phenotypes for gene: PLEKHG2 were set to Leukodystrophy and acquired microcephaly with or without dystonia 616763 Review for gene: PLEKHG2 was set to AMBER Added comment: 5 children from 2 unrelated consanguineous families with leukodystrophy and acquired microcephaly with or without dystonia, and homozygous for the same variant. Limited functional assays were conducted. Sources: Expert list |
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| Leukodystrophy - paediatric v0.30 | PHGDH |
Bryony Thompson gene: PHGDH was added gene: PHGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 Review for gene: PHGDH was set to RED Added comment: No clear link to leukodystophy for this gene. Sources: Expert list |
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| Leukodystrophy - paediatric v0.29 | OCRL | Bryony Thompson reviewed gene: OCRL: Rating: RED; Mode of pathogenicity: None; Publications: 31922591, 19168822, 11315202; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.29 | OCLN |
Bryony Thompson gene: OCLN was added gene: OCLN was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCLN were set to Pseudo-TORCH syndrome 1 251290 Review for gene: OCLN was set to RED Added comment: Link to leukodystrophy not clear. Sources: Expert list |
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| Leukodystrophy - paediatric v0.27 | NDUFA2 |
Bryony Thompson gene: NDUFA2 was added gene: NDUFA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA2 were set to ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy Review for gene: NDUFA2 was set to AMBER Added comment: Biallelic variants in 2 unrelated patients with cystic leukoencephalopathy and complex I deficiency. Sources: Expert list |
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| Leukodystrophy - paediatric v0.26 | MRPS16 |
Bryony Thompson gene: MRPS16 was added gene: MRPS16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2, 610498 Review for gene: MRPS16 was set to RED Added comment: No clear link to leukodystrophy reported. Sources: Expert list |
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| Leukodystrophy - paediatric v0.25 | MPLKIP |
Bryony Thompson gene: MPLKIP was added gene: MPLKIP was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive 234050 Review for gene: MPLKIP was set to RED Added comment: White matter changes have been reported in association with trichothiodystrophy, but has not been reported in this subtype of the disease. Sources: Expert list |
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| Leukodystrophy - paediatric v0.23 | HMBS | Bryony Thompson reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy - paediatric v0.23 | HMBS |
Bryony Thompson gene: HMBS was added gene: HMBS was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: HMBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMBS were set to 27558376 Phenotypes for gene: HMBS were set to Acute intermittent porphyria-related leukoencephalopathy Review for gene: HMBS was set to RED Added comment: Compound heterozygous variants segregate in three affected individuals in a single family. Sources: Expert list |
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| Leukodystrophy - paediatric v0.22 | GTF2H5 |
Bryony Thompson gene: GTF2H5 was added gene: GTF2H5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive 616395 Review for gene: GTF2H5 was set to RED Added comment: White matter changes have been reported in association with trichothiodystrophy, but not in association with this subtype condition. Sources: Expert list |
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| Leukodystrophy - paediatric v0.20 | GFPT1 |
Bryony Thompson gene: GFPT1 was added gene: GFPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 30635494 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy Review for gene: GFPT1 was set to AMBER Added comment: 4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. MRI was suggestive of a mitochondrial leukoencephalopathy. Need additional unrelated cases with leukoencephalopathy as a feature of the condition to upgrade to green. Sources: Expert list |
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| Leukodystrophy - paediatric v0.18 | FIG4 |
Bryony Thompson gene: FIG4 was added gene: FIG4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIG4 were set to 30740813; 29688489 Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J 611228; Yunis-Varon syndrome 216340; leukoencephalopathy Review for gene: FIG4 was set to GREEN Added comment: Two unrelated families with leukoencephalopathy as a feature of their conditions, and a mouse model recapitulating the phenotype. Sources: Expert list |
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| Leukodystrophy - paediatric v0.17 | ERCC3 |
Bryony Thompson gene: ERCC3 was added gene: ERCC3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive 616390 Review for gene: ERCC3 was set to RED Added comment: White matter changes have been reported in Trichothiodystrophy cases, but no neurological findings have been reported for the subtype of the condition caused by ERCC3. Sources: Expert list |
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| Leukodystrophy - paediatric v0.15 | ERCC2 |
Bryony Thompson gene: ERCC2 was added gene: ERCC2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 29451896 Phenotypes for gene: ERCC2 were set to Trichothiodystrophy 1, photosensitive 601675 Review for gene: ERCC2 was set to AMBER Added comment: White matter changes have been reported as a feature of trichothiodystrophy, but has only been reported in association with ERCC2 in 1 case. Sources: Expert list |
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| Leukodystrophy - paediatric v0.13 | DEGS1 |
Bryony Thompson gene: DEGS1 was added gene: DEGS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DEGS1 were set to Leukodystrophy, hypomyelinating, 18 618404 Review for gene: DEGS1 was set to GREEN Added comment: Hypomyelinating leukodystorphy is the prominent feature of this condition. Sources: Expert list |
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| Leukodystrophy - paediatric v0.11 | CYP2U1 |
Bryony Thompson gene: CYP2U1 was added gene: CYP2U1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP2U1 were set to 27292318 Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive 615030 Review for gene: CYP2U1 was set to AMBER Added comment: White matter lesions have been reported in the condition, but are rare and not a prominent feature. Sources: Expert list |
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| Leukodystrophy - paediatric v0.10 | COQ9 |
Bryony Thompson gene: COQ9 was added gene: COQ9 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ9 were set to Coenzyme Q10 deficiency, primary, 5 614654 Review for gene: COQ9 was set to RED Added comment: White matter changes are not reported as a prominent feature of the condition. Sources: Expert list |
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| Leukodystrophy - paediatric v0.9 | COQ8A |
Bryony Thompson gene: COQ8A was added gene: COQ8A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4 612016 Review for gene: COQ8A was set to RED Added comment: White matter changes don't appear to be a prominent feature of the condition. Sources: Expert list |
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| Leukodystrophy - paediatric v0.7 | BCAP31 |
Bryony Thompson gene: BCAP31 was added gene: BCAP31 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: BCAP31 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCAP31 were set to Deafness, dystonia, and cerebral hypomyelination, 300475 Review for gene: BCAP31 was set to GREEN Added comment: White matter changes are a feature of the condition. Sources: Expert list |
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| Leukodystrophy - paediatric v0.6 | ATPAF2 |
Bryony Thompson gene: ATPAF2 was added gene: ATPAF2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ATPAF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATPAF2 were set to 14757859 Phenotypes for gene: ATPAF2 were set to ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Review for gene: ATPAF2 was set to RED Added comment: A homozygous missense variant identified in a single case diagnosed with mitochondrial encephalomyopathy, with white matter mypoplasia as one of the neurological features. No functional assays of the variant were conducted. Sources: Expert list |
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| Leukodystrophy - paediatric v0.4 | ATP7A |
Bryony Thompson gene: ATP7A was added gene: ATP7A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ATP7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7A were set to 26937406; 21924848; 29789304 Phenotypes for gene: ATP7A were set to Menkes disease, 309400 Review for gene: ATP7A was set to GREEN Added comment: One of the features of Menkes disease is white matter changes and an ATP7A mouse model demonstrates hypomyelination. Sources: Expert list |
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| Leukodystrophy - paediatric v0.3 | AIMP2 |
Bryony Thompson gene: AIMP2 was added gene: AIMP2 was added to Leukodystrophy - paediatric_RMH. Sources: Literature Mode of inheritance for gene: AIMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AIMP2 were set to 29215095 Phenotypes for gene: AIMP2 were set to Leukodystrophy, hypomyelinating, 17 618006 Review for gene: AIMP2 was set to RED Added comment: Two apparently unrelated consanguineous families with the same truncating variant. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor. No functional analyses conducted. Sources: Literature |
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| Leukodystrophy - paediatric v0.1 | ACBD5 |
Bryony Thompson gene: ACBD5 was added gene: ACBD5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD5 were set to 23105016; 27799409 Phenotypes for gene: ACBD5 were set to Progressive leukodystrophy; syndromic cleft palate; ataxia; retinal dystrophy Review for gene: ACBD5 was set to GREEN Added comment: One family and one case with a phenotype that includes leukodystrophy as a prominent feature of the condition, and in vitro functional assays demonstrating ACBD5 deficiency shares similarities with other peroxisomal single enzyme deficiencies. Sources: Expert list |
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| Leukodystrophy - paediatric v0.0 | WARS2 |
Bryony Thompson gene: WARS2 was added gene: WARS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM#617710 |
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| Leukodystrophy - paediatric v0.0 | VPS11 |
Bryony Thompson gene: VPS11 was added gene: VPS11 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, MIM#616683 |
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| Leukodystrophy - paediatric v0.0 | TYMP |
Bryony Thompson gene: TYMP was added gene: TYMP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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); Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | TUFM |
Bryony Thompson gene: TUFM was added gene: TUFM was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | TACO1 |
Bryony Thompson gene: TACO1 was added gene: TACO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | SURF1 |
Bryony Thompson gene: SURF1 was added gene: SURF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder |
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| Leukodystrophy - paediatric v0.0 | SUMF1 |
Bryony Thompson gene: SUMF1 was added gene: SUMF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUMF1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Multiple sulfatase deficiency |
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| Leukodystrophy - paediatric v0.0 | SUCLA2 |
Bryony Thompson gene: SUCLA2 was added gene: SUCLA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) |
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| Leukodystrophy - paediatric v0.0 | SOX10 |
Bryony Thompson gene: SOX10 was added gene: SOX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX10 were set to peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | SLC25A4 |
Bryony Thompson gene: SLC25A4 was added gene: SLC25A4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC25A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A4 were set to Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | SLC25A12 |
Bryony Thompson gene: SLC25A12 was added gene: SLC25A12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral 612949 |
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| Leukodystrophy - paediatric v0.0 | SLC16A2 |
Bryony Thompson gene: SLC16A2 was added gene: SLC16A2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC16A2 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: SLC16A2 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Allan-Herndon-Dudley syndrome; Monocarboxylate transporter 8 deficiency (MCT8); Hypomyelinating Leukodystrophy & Pelizaeus-Merzbacher Disease |
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| Leukodystrophy - paediatric v0.0 | SDHB |
Bryony Thompson gene: SDHB was added gene: SDHB was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHB were set to Succinate dehydrogenase-deficient leukoencephalopathy; Mitochondrial Leukoencephalopathy; complex II deficiency |
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| Leukodystrophy - paediatric v0.0 | SDHAF1 |
Bryony Thompson gene: SDHAF1 was added gene: SDHAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency 252011 |
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| Leukodystrophy - paediatric v0.0 | SDHA |
Bryony Thompson gene: SDHA was added gene: SDHA was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHA were set to Mitochondrial respiratory chain complex II deficiency, MIM#252011 |
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| Leukodystrophy - paediatric v0.0 | SCP2 |
Bryony Thompson gene: SCP2 was added gene: SCP2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy 613724 |
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| Leukodystrophy - paediatric v0.0 | SCO2 |
Bryony Thompson gene: SCO2 was added gene: SCO2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 604377 |
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| Leukodystrophy - paediatric v0.0 | SCO1 |
Bryony Thompson gene: SCO1 was added gene: SCO1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to Mitochondrial complex IV deficiency 220110 |
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| Leukodystrophy - paediatric v0.0 | RRM2B |
Bryony Thompson gene: RRM2B was added gene: RRM2B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 |
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| Leukodystrophy - paediatric v0.0 | RARS |
Bryony Thompson gene: RARS was added gene: RARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 616140 |
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| Leukodystrophy - paediatric v0.0 | PYCR2 |
Bryony Thompson gene: PYCR2 was added gene: PYCR2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10 616420 |
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| Leukodystrophy - paediatric v0.0 | PC |
Bryony Thompson gene: PC was added gene: PC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, MIM#266150 |
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| Leukodystrophy - paediatric v0.0 | NUBPL |
Bryony Thompson gene: NUBPL was added gene: NUBPL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | NKX6-2 |
Bryony Thompson gene: NKX6-2 was added gene: NKX6-2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 |
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| Leukodystrophy - paediatric v0.0 | NFU1 |
Bryony Thompson gene: NFU1 was added gene: NFU1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFU1 were set to 29441221 Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, MIM#605711 |
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| Leukodystrophy - paediatric v0.0 | NDUFV1 |
Bryony Thompson gene: NDUFV1 was added gene: NDUFV1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | NDUFS8 |
Bryony Thompson gene: NDUFS8 was added gene: NDUFS8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to Mitochondrial complex I disorders; Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | NDUFS7 |
Bryony Thompson gene: NDUFS7 was added gene: NDUFS7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial respiratory chain complex I deficiency; Leigh syndrome; Genetic leukoencephalopathies: mitochondrial disorders; Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | NDUFS4 |
Bryony Thompson gene: NDUFS4 was added gene: NDUFS4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to Mitochondrial complex I deficiency; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | NDUFS2 |
Bryony Thompson gene: NDUFS2 was added gene: NDUFS2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I disorders; Leigh syndrome; Mitochondrial Leukoencephalopathy; Leigh syndrome associated with mitochondrial complex I deficiency |
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| Leukodystrophy - paediatric v0.0 | NDUFS1 |
Bryony Thompson gene: NDUFS1 was added gene: NDUFS1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex I disorders; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | NDUFAF3 |
Bryony Thompson gene: NDUFAF3 was added gene: NDUFAF3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF3 were set to Mitochondrial complex I deficiency 252010 |
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| Leukodystrophy - paediatric v0.0 | NDUFAF1 |
Bryony Thompson gene: NDUFAF1 was added gene: NDUFAF1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF1 were set to Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | NAXE |
Bryony Thompson gene: NAXE was added gene: NAXE was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, MIM#617186 |
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| Leukodystrophy - paediatric v0.0 | MTFMT |
Bryony Thompson gene: MTFMT was added gene: MTFMT was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15; 22499348; 23499752; 614947 |
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| Leukodystrophy - paediatric v0.0 | LYRM7 |
Bryony Thompson gene: LYRM7 was added gene: LYRM7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYRM7 were set to 615838; Mitochondrial complex III deficiency, nuclear type 8; leukoencephalopathy and complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle |
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| Leukodystrophy - paediatric v0.0 | ISCA2 |
Bryony Thompson gene: ISCA2 was added gene: ISCA2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 |
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| Leukodystrophy - paediatric v0.0 | IFIH1 |
Bryony Thompson gene: IFIH1 was added gene: IFIH1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: IFIH1 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 7 |
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| Leukodystrophy - paediatric v0.0 | IBA57 |
Bryony Thompson gene: IBA57 was added gene: IBA57 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 |
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| Leukodystrophy - paediatric v0.0 | HSPD1 |
Bryony Thompson gene: HSPD1 was added gene: HSPD1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HSPD1 was set to Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant, 605280; Leukodystrophy, hypomyelinating, 4, 612233 |
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| Leukodystrophy - paediatric v0.0 | HSD17B4 |
Bryony Thompson gene: HSD17B4 was added gene: HSD17B4 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B4 were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome-Associated Disorders & Zellweger Syndrome; D-bifunctional protein deficiency |
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| Leukodystrophy - paediatric v0.0 | HIKESHI |
Bryony Thompson gene: HIKESHI was added gene: HIKESHI was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM#616881 |
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| Leukodystrophy - paediatric v0.0 | GFM1 |
Bryony Thompson gene: GFM1 was added gene: GFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1; Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | FUCA1 |
Bryony Thompson gene: FUCA1 was added gene: FUCA1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUCA1 were set to Fucosidosis; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | FOLR1 |
Bryony Thompson gene: FOLR1 was added gene: FOLR1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency 613068 |
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| Leukodystrophy - paediatric v0.0 | FAM126A |
Bryony Thompson gene: FAM126A was added gene: FAM126A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM126A were set to Hypomyelination and Congenital Cataract; Leukodystrophy, hypomyelinating, 5, 610532 |
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| Leukodystrophy - paediatric v0.0 | FA2H |
Bryony Thompson gene: FA2H was added gene: FA2H was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, MIM#612319 |
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| Leukodystrophy - paediatric v0.0 | ETFDH |
Bryony Thompson gene: ETFDH was added gene: ETFDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Mitochondrial Leukoencephalopathy; Glutaric Acidemia IIC |
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| Leukodystrophy - paediatric v0.0 | ERCC8 |
Bryony Thompson gene: ERCC8 was added gene: ERCC8 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to Cockayne Syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | ERCC6 |
Bryony Thompson gene: ERCC6 was added gene: ERCC6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome; UV-sensitive syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | DPYD |
Bryony Thompson gene: DPYD was added gene: DPYD was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency 274270; 5-fluorouracil toxicity 274270 |
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| Leukodystrophy - paediatric v0.0 | DGUOK |
Bryony Thompson gene: DGUOK was added gene: DGUOK was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DGUOK were set to General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 3 |
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| Leukodystrophy - paediatric v0.0 | D2HGDH |
Bryony Thompson gene: D2HGDH was added gene: D2HGDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: D2HGDH were set to L2-Hydroxyglutaric aciduria |
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| Leukodystrophy - paediatric v0.0 | COX15 |
Bryony Thompson gene: COX15 was added gene: COX15 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorders |
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| Leukodystrophy - paediatric v0.0 | COX10 |
Bryony Thompson gene: COX10 was added gene: COX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX10 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial complex IV disorder |
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| Leukodystrophy - paediatric v0.0 | COQ2 |
Bryony Thompson gene: COQ2 was added gene: COQ2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Coenzyme Q10 deficiency, primary, 1 |
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| Leukodystrophy - paediatric v0.0 | CNTNAP1 |
Bryony Thompson gene: CNTNAP1 was added gene: CNTNAP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, MIM#618186 |
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| Leukodystrophy - paediatric v0.0 | CLPP |
Bryony Thompson gene: CLPP was added gene: CLPP was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 27899912 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM#614129 |
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| Leukodystrophy - paediatric v0.0 | CIC |
Bryony Thompson gene: CIC was added gene: CIC was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CIC were set to Mental retardation, autosomal dominant 45 617600 |
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| Leukodystrophy - paediatric v0.0 | BOLA3 |
Bryony Thompson gene: BOLA3 was added gene: BOLA3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299 |
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| Leukodystrophy - paediatric v0.0 | BCS1L |
Bryony Thompson gene: BCS1L was added gene: BCS1L was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Mitochondrial complex III disorders; Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | AIMP1 |
Bryony Thompson gene: AIMP1 was added gene: AIMP1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3 260600 |
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| Leukodystrophy - paediatric v0.0 | AIFM1 |
Bryony Thompson gene: AIFM1 was added gene: AIFM1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to 28842795 Phenotypes for gene: AIFM1 were set to hypomyelinating leukodystrophy and spondylometaphyseal dysplasia |
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| Leukodystrophy - paediatric v0.0 | ACOX1 |
Bryony Thompson gene: ACOX1 was added gene: ACOX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency 264470; General Leukodystrophy & Mitochondrial Leukoencephalopathy |
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| Leukodystrophy - paediatric v0.0 | TMEM106B |
Bryony Thompson gene: TMEM106B was added gene: TMEM106B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM106B were set to Leukodystrophy, hypomyelinating 16, MIM#617964 |
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| Leukodystrophy - paediatric v0.0 | PEX7 |
Bryony Thompson gene: PEX7 was added gene: PEX7 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Peroxisome biogenesis disorder 9B, 614879 |
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| Leukodystrophy - paediatric v0.0 | PEX6 |
Bryony Thompson gene: PEX6 was added gene: PEX6 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862; Peroxisome biogenesis disorder 4B, 614863 |
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| Leukodystrophy - paediatric v0.0 | PEX5 |
Bryony Thompson gene: PEX5 was added gene: PEX5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110; Peroxisome biogenesis disorder 2B, 202370 |
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| Leukodystrophy - paediatric v0.0 | PEX3 |
Bryony Thompson gene: PEX3 was added gene: PEX3 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882; ?Peroxisome biogenesis disorder 10B, 617370 |
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| Leukodystrophy - paediatric v0.0 | PEX26 |
Bryony Thompson gene: PEX26 was added gene: PEX26 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873 |
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| Leukodystrophy - paediatric v0.0 | PEX2 |
Bryony Thompson gene: PEX2 was added gene: PEX2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger) 614866 |
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| Leukodystrophy - paediatric v0.0 | PEX19 |
Bryony Thompson gene: PEX19 was added gene: PEX19 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger), 614886 |
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| Leukodystrophy - paediatric v0.0 | PEX16 |
Bryony Thompson gene: PEX16 was added gene: PEX16 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877 |
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| Leukodystrophy - paediatric v0.0 | PEX14 |
Bryony Thompson gene: PEX14 was added gene: PEX14 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), 614887 |
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| Leukodystrophy - paediatric v0.0 | PEX13 |
Bryony Thompson gene: PEX13 was added gene: PEX13 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883 |
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| Leukodystrophy - paediatric v0.0 | PEX12 |
Bryony Thompson gene: PEX12 was added gene: PEX12 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510 |
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| Leukodystrophy - paediatric v0.0 | PEX11B |
Bryony Thompson gene: PEX11B was added gene: PEX11B was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B, 614920 |
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| Leukodystrophy - paediatric v0.0 | PEX10 |
Bryony Thompson gene: PEX10 was added gene: PEX10 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6B, 614871 |
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| Leukodystrophy - paediatric v0.0 | PEX1 |
Bryony Thompson gene: PEX1 was added gene: PEX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 |
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| Leukodystrophy - paediatric v0.0 | OCRL |
Bryony Thompson gene: OCRL was added gene: OCRL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 |
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| Leukodystrophy - paediatric v0.0 | KIF5A |
Bryony Thompson gene: KIF5A was added gene: KIF5A was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal, MIM#617235 |
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| Leukodystrophy - paediatric v0.0 | HMGCL |
Bryony Thompson gene: HMGCL was added gene: HMGCL was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 |
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| Leukodystrophy - paediatric v0.0 | AARS |
Bryony Thompson gene: AARS was added gene: AARS was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS were set to Epileptic encephalopathy, early infantile, 29, MIM#616339 |
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