Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Genetic Epilepsy v0.1881 ATP6V0C Zornitza Stark Phenotypes for gene: ATP6V0C were changed from Epilepsy; Intellectual Disability; microcephaly to Epilepsy, early-onset, with or without developmental delay, MIM#620465; Epilepsy; Intellectual Disability; microcephaly
Genetic Epilepsy v0.1880 ATP6V0C Zornitza Stark edited their review of gene: ATP6V0C: Changed phenotypes: Epilepsy, early-onset, with or without developmental delay, MIM#620465, Intellectual disability, seizures
Genetic Epilepsy v0.1680 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Genetic Epilepsy v0.1680 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1679 ATP6V0C Alison Yeung Classified gene: ATP6V0C as Green List (high evidence)
Genetic Epilepsy v0.1679 ATP6V0C Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1677 ATP6V0C Naomi Baker reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1231 ATP6V0C Zornitza Stark Marked gene: ATP6V0C as ready
Genetic Epilepsy v0.1231 ATP6V0C Zornitza Stark Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1231 ATP6V0C Zornitza Stark Classified gene: ATP6V0C as Amber List (moderate evidence)
Genetic Epilepsy v0.1231 ATP6V0C Zornitza Stark Gene: atp6v0c has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1230 ATP6V0C Zornitza Stark Tag SV/CNV tag was added to gene: ATP6V0C.
Genetic Epilepsy v0.1230 ATP6V0C Zornitza Stark reviewed gene: ATP6V0C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability, seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1230 ATP6V0C Kavitha Kothur gene: ATP6V0C was added
gene: ATP6V0C was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP6V0C were set to 33190975; 33090716
Phenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly
Penetrance for gene: ATP6V0C were set to unknown
Review for gene: ATP6V0C was set to AMBER
Added comment: Sources: Literature