| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Callosome v0.501 | ATP6V0C | Zornitza Stark Phenotypes for gene: ATP6V0C were changed from neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related to Epilepsy, early-onset, with or without developmental delay, MIM#620465; neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.483 | ATP6V0C | Alison Yeung Marked gene: ATP6V0C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.483 | ATP6V0C | Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.483 | ATP6V0C | Alison Yeung Classified gene: ATP6V0C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.483 | ATP6V0C | Alison Yeung Gene: atp6v0c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.482 | ATP6V0C |
Naomi Baker gene: ATP6V0C was added gene: ATP6V0C was added to Callosome. Sources: Literature Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0C were set to PMID:36074901 Phenotypes for gene: ATP6V0C were set to neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related Review for gene: ATP6V0C was set to GREEN Added comment: 27 individuals reported with developmental delay, early-onset seizures, and ID. Of the 21 individuals with MRIs, five had agenesis/hypoplasia of the corpus callosum, five had cerebellar vermis, and four had delayed myelination. De novo variants identified in most individuals, including missense, frameshift and a stop-loss variant. Authors present some functional studies and postulate a dominant negative mechanism. Sources: Literature |
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