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| Mendeliome v2.513 | XXYLT1 | Zornitza Stark Marked gene: XXYLT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.513 | XXYLT1 | Zornitza Stark Gene: xxylt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.513 | XXYLT1 | Zornitza Stark Classified gene: XXYLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.513 | XXYLT1 | Zornitza Stark Gene: xxylt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.512 | XXYLT1 |
Zornitza Stark gene: XXYLT1 was added gene: XXYLT1 was added to Mendeliome. Sources: Literature founder tags were added to gene: XXYLT1. Mode of inheritance for gene: XXYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XXYLT1 were set to 42530953 Phenotypes for gene: XXYLT1 were set to Inherited retinal dystrophy, MONDO:0019118, XXYLT1-related Review for gene: XXYLT1 was set to AMBER Added comment: PMID 42530953 reports 7 individuals from 5 families with biallelic loss-of-function and missense variants in XXYLT1 presenting with inherited retinal dystrophy (cone‑rod or macular dystrophy). Homozygous c.505‑1G>C splice‑site variant found in four Finnish families (founder allele) and homozygous c.766G>A missense variant in a consanguineous UK family. Phenotypes included visual deterioration, cystoid macular oedema and schisis‑like macular changes; RNA splicing assays show exon 2 skipping for the recurrent c.505‑1G>C founder variant and Xylt1 knockout mice recapitulated retinal abnormalities. Sources: Literature |
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