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Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Marked gene: UBAP1L as ready
Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Gene: ubap1l has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Classified gene: UBAP1L as Green List (high evidence)
Cone-rod Dystrophy v0.54 UBAP1L Zornitza Stark Gene: ubap1l has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.53 UBAP1L Ee Ming Wong gene: UBAP1L was added
gene: UBAP1L was added to Cone-rod Dystrophy. Sources: Literature
Mode of inheritance for gene: UBAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBAP1L were set to PMID: 38293907; 38420906
Phenotypes for gene: UBAP1L were set to Cone-rod dystrophy (MONDO:0015993), UBAP1L-related
Review for gene: UBAP1L was set to GREEN
gene: UBAP1L was marked as current diagnostic
Added comment: - Twelve unrelated families with Hungary, the United States, Israel, Tunisia and the Netherlands with members presenting with autosomal recessive rod-cone or cone-rod dystrophy
- Reported variants included splice, nonsense, frameshift and in-frame del variants
- Age of disease onset was very variable, with some patients experiencing first symptoms during their fourth decade of life or later.
Sources: Literature