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| Hereditary ataxia with onset in adulthood v2.144 | VPS41 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: VPS41. Tag Q2_21_NHS_review was removed from gene: VPS41. |
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| Hereditary ataxia with onset in adulthood v2.144 | VPS41 | Sarah Leigh commented on gene: VPS41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.134 | VPS41 | Arina Puzriakova Tag Q2_21_NHS_review tag was added to gene: VPS41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.73 | VPS41 | Arina Puzriakova Publications for gene: VPS41 were set to 32367058; 33875678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.72 | VPS41 | Arina Puzriakova Classified gene: VPS41 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.72 | VPS41 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by James Polke (North Thames GLH). There are sufficient unrelated families with ataxia (9/11 patients) and VPS41 variants to rate Green - but this appears to be a childhood-onset condition. There is one older subject (22-year-old male - PMID:33764426) for whom the age of onset is not indicated but can probably be inferred by comparison with other cases. Inclusion may allow for identification of edge cases, but overall VPS41 will be flagged for GMS review to assess whether this is justified. |
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| Hereditary ataxia with onset in adulthood v2.72 | VPS41 | Arina Puzriakova Gene: vps41 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.71 | VPS41 |
Arina Puzriakova Tag Q2_21_rating was removed from gene: VPS41. Tag Q2_21_expert_review tag was added to gene: VPS41. |
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| Hereditary ataxia with onset in adulthood v2.71 | VPS41 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: VPS41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.71 | VPS41 | Arina Puzriakova reviewed gene: VPS41: Rating: AMBER; Mode of pathogenicity: None; Publications: 32808683, 33764426, 33851776; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.71 | VPS41 |
James Polke gene: VPS41 was added gene: VPS41 was added to Hereditary ataxia - adult onset. Sources: NHS GMS Mode of inheritance for gene: VPS41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS41 were set to 32367058; 33875678 Phenotypes for gene: VPS41 were set to Generalised Neurodevelopmental disorder; Ataxia; Dystonia Review for gene: VPS41 was set to GREEN Added comment: 32808683: Single individual reported with homozygous canonical splice site variant resulting in exon 7 skipping, and global developmental delay and generalized dystonia. He attained a few words and voluntary limb movements but never sat unsupported. He had pale optic discs and an axonal neuropathy. From 6 years of age, his condition began to deteriorate, with reduced motor abilities and alertness. An MRI of the brain showed atrophy of the superior cerebellar vermis and slimming of the posterior limb of the corpus callosum. VPS41 is component of the HOPS complex and other genes in the complex have been implicated in movement disorders. PMID 33764426: Additional 9 individuals from 5 unrelated families reported. Sources: NHS GMS |
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