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Date	Panel	Item	Activity
Filter activities 4 actions
10 Mar 2026	Fetal anomalies v6.152	ATP6V0A1	Arina Puzriakova Added phenotypes Developmental and epileptic encephalopathy 104, OMIM:619970; Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971 for gene: ATP6V0A1
10 Mar 2026	Fetal anomalies v6.148	ATP6V0A1	Arina Puzriakova commented on gene: ATP6V0A1
10 Mar 2026	Fetal anomalies v6.147	ATP6V0A1	Anna de Burca reviewed gene: ATP6V0A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40905141, 34909687, 33833240; Phenotypes: Developmental and epileptic encephalopathy 104, OMIM:619970, Neurodevelopmental disorder with epilepsy and brain atrophy, OMIM:619971; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
09 Mar 2026	Fetal anomalies v6.146	ATP6V0A1	Arina Puzriakova gene: ATP6V0A1 was added gene: ATP6V0A1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ATP6V0A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal