| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.547 | CHD7 | Zornitza Stark Marked gene: CHD7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.547 | CHD7 | Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.547 | CHD7 | Zornitza Stark Classified gene: CHD7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.547 | CHD7 | Zornitza Stark Gene: chd7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.546 | CHD7 |
Zornitza Stark gene: CHD7 was added gene: CHD7 was added to Cataract. Sources: Literature Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD7 were set to 38597178; 32436650 Phenotypes for gene: CHD7 were set to CHARGE syndrome, MIM# 214800 Review for gene: CHD7 was set to AMBER Added comment: PMID 38597178 reports six unrelated individuals (six families) with heterozygous loss‑of‑function CHD7 variants presenting with CHARGE syndrome and cataract, with detailed ophthalmic phenotyping; PMID 32436650 reports one additional individual (one family) with CHARGE syndrome and cataract caused by a heterozygous missense CHD7 variant. Overall, cataract is present in a small proportion of affected individuals. Sources: Literature |
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