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| Retinal disorders v9.13 | XXYLT1 | Achchuthan Shanmugasundram Classified gene: XXYLT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.13 | XXYLT1 | Achchuthan Shanmugasundram Gene: xxylt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.12 | XXYLT1 | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: XXYLT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.12 | XXYLT1 | Achchuthan Shanmugasundram Phenotypes for gene: XXYLT1 were changed from Retinal dystrophy to Cone-rod dystrophy, MONDO:0015993; Inherited retinal dystrophy, MONDO:0019118 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.11 | XXYLT1 | Achchuthan Shanmugasundram Publications for gene: XXYLT1 were set to PMID: 42530953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.10 | XXYLT1 | Luke Stuart reviewed gene: XXYLT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 42530953; Phenotypes: Cone-rod dystrophy (MONDO:0015993), Inherited retinal dystrophy (MONDO:0019118); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.10 | XXYLT1 |
Siying Lin gene: XXYLT1 was added gene: XXYLT1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: XXYLT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XXYLT1 were set to PMID: 42530953 Phenotypes for gene: XXYLT1 were set to Retinal dystrophy Mode of pathogenicity for gene: XXYLT1 was set to Other Review for gene: XXYLT1 was set to GREEN Added comment: Biallelic XXYLT1 variants were identified in 7 affected individuals from 5 unrelated families (4 Finnish and 1 UK) with autosomal recessive inherited retinal disease. The recurrent splice variant was supported by RNA studies demonstrating aberrant splicing and loss of function, while the independent UK family harboured a distinct homozygous missense variant. These findings support XXYLT1 is a novel cause of autosomal recessive inherited retinal disease. Sources: Literature |
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