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| Mendeliome v2.322 | CHAF1A | Lucy Spencer Classified gene: CHAF1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.322 | CHAF1A | Lucy Spencer Gene: chaf1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.321 | CHAF1A |
Lucy Spencer gene: CHAF1A was added gene: CHAF1A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CHAF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHAF1A were set to 39333427 Phenotypes for gene: CHAF1A were set to oculoauriculovertebral spectrum with radial defects MONDO:0007712, CHAF1A-related Review for gene: CHAF1A was set to GREEN Added comment: PMID 39333427 reports 8 individuals from 6 families with oculoauriculovertebral spectrum and heterozygous variants in CHAF1A- 2 canonical splice and 4 PTC. 5 of the variants were de novo (1 of which was then inherited by the probands affected children) and 1 was inherited from a healthy father. all variants were absent from gnomad and the gene is constrained for LOF variants. Sources: Literature |
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