Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Cerebral Palsy v1.222 | CHCHD10 | Zornitza Stark Marked gene: CHCHD10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.222 | CHCHD10 | Zornitza Stark Gene: chchd10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.222 | CHCHD10 | Zornitza Stark Classified gene: CHCHD10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.222 | CHCHD10 | Zornitza Stark Gene: chchd10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cerebral Palsy v1.193 | CHCHD10 |
Clare van Eyk gene: CHCHD10 was added gene: CHCHD10 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to PMID: 38693247 Phenotypes for gene: CHCHD10 were set to Myopathy, isolated mitochondrial, MIM#616209 Review for gene: CHCHD10 was set to AMBER Added comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Sources: Literature |