| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Syndromic Retinopathy v0.251 | DDX41 | Zornitza Stark Marked gene: DDX41 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.251 | DDX41 | Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.251 | DDX41 | Zornitza Stark Classified gene: DDX41 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.251 | DDX41 | Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.250 | DDX41 |
Zornitza Stark gene: DDX41 was added gene: DDX41 was added to Syndromic Retinopathy. Sources: Literature preprint tags were added to gene: DDX41. Mode of inheritance for gene: DDX41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDX41 were set to 41646732 Phenotypes for gene: DDX41 were set to Inherited retinal dystrophy, MONDO:0019118, DDX41-related Review for gene: DDX41 was set to GREEN Added comment: This study reports 13 individuals from nine unrelated families with biallelic DDX41 variants (missense, frameshift and splice‑affecting) presenting with Leber congenital amaurosis / early‑onset severe retinal dystrophy, often accompanied by neurodevelopmental and skeletal anomalies. The variants are ultra‑rare, segregate in an autosomal recessive pattern, and lead to reduced DDX41 protein levels in patient fibroblasts and in a knock‑in mouse retina, with early ERG deficits and progressive photoreceptor loss. Biochemical assays demonstrate impaired RNA binding and protein instability, supporting loss‑of‑function as the disease mechanism. Sources: Literature |
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