| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.217 | ATP6V1A | Zornitza Stark Marked gene: ATP6V1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.217 | ATP6V1A | Zornitza Stark Gene: atp6v1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.217 | ATP6V1A | Zornitza Stark Classified gene: ATP6V1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.217 | ATP6V1A | Zornitza Stark Gene: atp6v1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.193 | ATP6V1A |
Clare van Eyk gene: ATP6V1A was added gene: ATP6V1A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ATP6V1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP6V1A were set to PMID: 38693247 Phenotypes for gene: ATP6V1A were set to Developmental and epileptic encephalopathy 93, MIM#618012 Review for gene: ATP6V1A was set to AMBER Added comment: 1 individual with mono-allelic LP missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clincal information not supplied. Spastic quadriparesis and dyskinesia are reported features of DEE93. Sources: Literature |
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