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| Mendeliome v2.425 | DNAJC16 | Zornitza Stark Marked gene: DNAJC16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.425 | DNAJC16 | Zornitza Stark Gene: dnajc16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.425 | DNAJC16 |
Zornitza Stark gene: DNAJC16 was added gene: DNAJC16 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DNAJC16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC16 were set to 42434812 Phenotypes for gene: DNAJC16 were set to ciliopathy, MONDO:0005308 Review for gene: DNAJC16 was set to RED Added comment: PMID 42434812 reports ?three families with homozygous loss-of-function DNAJC16 variants causing a ciliopathy phenotype. Minimal phenotypic or genetic detail, part of a large paper putting forward multiple novel gene-disease associations. Sources: Literature |
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