| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.434 | CHCHD2 | Zornitza Stark Marked gene: CHCHD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | CHCHD2 | Zornitza Stark Gene: chchd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.322 | CHCHD2 | Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.322 | CHCHD2 | Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.321 | CHCHD2 |
Bryony Thompson gene: CHCHD2 was added gene: CHCHD2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778 Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710 Review for gene: CHCHD2 was set to GREEN Added comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function. Sources: Literature |
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