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| Mendeliome v1.4545 | ZNF124 | Zornitza Stark Marked gene: ZNF124 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4545 | ZNF124 | Zornitza Stark Gene: znf124 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4545 | ZNF124 |
Zornitza Stark gene: ZNF124 was added gene: ZNF124 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZNF124 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF124 were set to 41708596 Phenotypes for gene: ZNF124 were set to Retinitis pigmentosa, MONDO:0019200, ZNF124-related Review for gene: ZNF124 was set to RED Added comment: PMID 41708596 report 2 individuals from a consanguineous family with retinitis pigmentosa and a homozygous splice‑site loss‑of‑function variant c.219‑1delG in ZNF124. The variant co‑segregates with disease and mouse retina‑specific knockout recapitulates the retinal degeneration phenotype through loss of ZNF124‑mediated activation of MSX2. Sources: Literature |
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