| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Microcephaly v1.227 | ATP6V0C | Zornitza Stark Marked gene: ATP6V0C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.227 | ATP6V0C | Zornitza Stark Gene: atp6v0c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.227 | ATP6V0C | Zornitza Stark Classified gene: ATP6V0C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.227 | ATP6V0C | Zornitza Stark Gene: atp6v0c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.226 | ATP6V0C |
Zornitza Stark gene: ATP6V0C was added gene: ATP6V0C was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V0C were set to 33190975; 33090716; 36074901 Phenotypes for gene: ATP6V0C were set to Epilepsy, early-onset, 3, with or without developmental delay, OMIM:620465 Review for gene: ATP6V0C was set to GREEN Added comment: PMID:36074901 - 5 out of 27 patients had severe microcephaly (having occipitofrontal circumference (OFC) beyond 3 SD below the mean for their age). Sources: Expert Review |
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