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| 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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| Mendeliome v1.614 | LY96 | Zornitza Stark Marked gene: LY96 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.614 | LY96 | Zornitza Stark Gene: ly96 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.614 | LY96 |
Zornitza Stark gene: LY96 was added gene: LY96 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: LY96 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LY96 were set to 36462957 Phenotypes for gene: LY96 were set to Inborn error of immunity, MONDO:0003778, LY96-related Review for gene: LY96 was set to RED Added comment: Single individual with infantile colitis associated with failure-to-thrive, bloody diarrhoea, and perianal abscesses since the age of 4 months. Later developed bronchiectasis and persistent pneumonia, which required lobectomy at the age of 6 years. Found to have homozygous inflame deletion. Brother with same deletion presented with recurrent otitis media and pneumonia but exhibited no signs of intestinal inflammation. Sources: Expert Review |
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