| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v1.18 | ATP6V0A1 | Elena Savva Phenotypes for gene: ATP6V0A1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.326 | ATP6V0A1 | Zornitza Stark Marked gene: ATP6V0A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.326 | ATP6V0A1 | Zornitza Stark Gene: atp6v0a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.326 | ATP6V0A1 | Zornitza Stark Classified gene: ATP6V0A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.326 | ATP6V0A1 | Zornitza Stark Gene: atp6v0a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.325 | ATP6V0A1 |
Chern Lim gene: ATP6V0A1 was added gene: ATP6V0A1 was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ATP6V0A1 were set to PMID:34909687 Phenotypes for gene: ATP6V0A1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated Review for gene: ATP6V0A1 was set to GREEN gene: ATP6V0A1 was marked as current diagnostic Added comment: PMID: 34909687 - 17 individuals from 14 unrelated families: 5 affected individuals with biallelic variants, presented with early-onset progressive myoclonus epilepsy with ataxia; 12 individuals carried de novo missense variants and showed severe developmental and epileptic encephalopathy. - The mean age of onset was 11.8+/-7.5 years for individuals carrying the compound heterozygous variants and 5.8+/-4.2 months for individuals with the de novo variants. - The R740Q variant, which alone accounts for ~50% of the mutations identified among our cases, leads to failure of lysosomal hydrolysis by directly impairing acidification of the endolysosomal compartment, causing autophagic dysfunction and severe developmental defect in C. elegans. Sources: Literature |
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