Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.148 | VPS13D |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: VPS13D. Tag Q3_24_NHS_review was removed from gene: VPS13D. |
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| Hereditary neuropathy or pain disorder v6.148 | VPS13D | Sarah Leigh reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | VPS13D |
Sarah Leigh Source NHS GMS was added to VPS13D. Source Expert Review Green was added to VPS13D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.79 | VPS13D | Arina Puzriakova Phenotypes for gene: VPS13D were changed from ataxia; spasticity; peripheral neuropathy to Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.78 | VPS13D | Arina Puzriakova Classified gene: VPS13D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.78 | VPS13D |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Alexander Rossor (UCL Institute of Neurology). There is sufficient evidence to promote this gene to Green at the next GMS panel update. Biallelic variants in VPS13D cause a progressive spinocerebellar ataxia which can be associated with mild to moderate axonal sensorineural peripheral neuropathy. Sufficient unrelated cases to justify inclusion on the panel. |
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| Hereditary neuropathy or pain disorder v5.78 | VPS13D | Arina Puzriakova Gene: vps13d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.77 | VPS13D |
Arina Puzriakova Tag Q3_24_promote_green tag was added to gene: VPS13D. Tag Q3_24_NHS_review tag was added to gene: VPS13D. |
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| Hereditary neuropathy or pain disorder v5.19 | VPS13D |
Alexander Rossor gene: VPS13D was added gene: VPS13D was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS13D were set to 29518281: 29604224: 14681893: 11960835 Phenotypes for gene: VPS13D were set to ataxia; spasticity; peripheral neuropathy Penetrance for gene: VPS13D were set to Complete Review for gene: VPS13D was set to GREEN Added comment: Sources: Expert list |
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