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| Ataxia and cerebellar anomalies - narrow panel v3.30 | ATP6V0A1 | Eleanor Williams Tag Q3_22_rating was removed from gene: ATP6V0A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | ATP6V0A1 | Eleanor Williams reviewed gene: ATP6V0A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | ATP6V0A1 |
Eleanor Williams Source Expert Review Green was added to ATP6V0A1. Source NHS GMS was added to ATP6V0A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v2.296 | ATP6V0A1 |
Sarah Leigh Tag Q3_22_MOI was removed from gene: ATP6V0A1. Tag Q3_22_NHS_review was removed from gene: ATP6V0A1. |
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| Ataxia and cerebellar anomalies - narrow panel v2.296 | ATP6V0A1 | Sarah Leigh edited their review of gene: ATP6V0A1: Added comment: Only 2/4 biallelic cases reported by PMID: 34909687, exhibited ataxia, as a result of this biallelic mode of inheritance has not been included for ATP6V0A1 on the Ataxia and cerebellar anomalies - narrow panel.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.296 | ATP6V0A1 | Sarah Leigh Entity copied from Genetic epilepsy syndromes v2.539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.296 | ATP6V0A1 |
Sarah Leigh gene: ATP6V0A1 was added gene: ATP6V0A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature,Expert Review Amber Q3_22_rating, Q3_22_MOI, Q3_22_NHS_review tags were added to gene: ATP6V0A1. Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0A1 were set to 30842224; 33057194; 34909687; 33833240 Phenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic) |
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