| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4540 | WDR59 | Zornitza Stark Marked gene: WDR59 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4540 | WDR59 | Zornitza Stark Gene: wdr59 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4540 | WDR59 | Zornitza Stark Classified gene: WDR59 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4540 | WDR59 | Zornitza Stark Gene: wdr59 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4539 | WDR59 |
Zornitza Stark gene: WDR59 was added gene: WDR59 was added to Mendeliome. Sources: Literature founder tags were added to gene: WDR59. Mode of inheritance for gene: WDR59 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR59 were set to 41715954 Phenotypes for gene: WDR59 were set to Syndromic disease, MONDO:0002254 Review for gene: WDR59 was set to AMBER Added comment: PMID 41715954 reports six individuals from four unrelated families with biallelic WDR59 variants causing early‑onset autosomal recessive syndromic dilated cardiomyopathy, cataract, facial dysmorphism, growth retardation and developmental delay. Three Saudi families share the homozygous missense founder variant c.2887G>A (p.Gly963Arg) and a French family carries compound heterozygous intronic splice‑site variants; RNA‑seq shows aberrant splicing and reduced WDR59 expression, supporting loss‑of‑function. Segregation data confirm recessive inheritance, making WDR59 a diagnostic‑grade gene. Founder variant accounts for three of four families, hence Amber rating Sources: Literature |
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