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| Retinal disorders v4.59 | RAX2 | Achchuthan Shanmugasundram Publications for gene: RAX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.58 | RAX2 | Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.; to: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.58 | RAX2 | Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.58 | RAX2 | Achchuthan Shanmugasundram Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.57 | RAX2 | Achchuthan Shanmugasundram Phenotypes for gene: RAX2 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Macular Degeneration; Eye Disorders; Cone-Rod Dystrophy, Dominant; Cone-rod dystrophy 11 to Cone-rod dystrophy 11, OMIM:610381; Retinitis pigmentosa 95, OMIM:620102; ?Macular degeneration, age-related, 6, OMIM:613757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.56 | RAX2 | Achchuthan Shanmugasundram Tag Q1_24_MOI tag was added to gene: RAX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.56 | RAX2 | Achchuthan Shanmugasundram reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30377383, 30607024; Phenotypes: Cone-rod dystrophy 11, OMIM:610381, Retinitis pigmentosa 95, OMIM:620102, ?Macular degeneration, age-related, 6, OMIM:613757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.159 | RAX2 | Gavin Arno reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.137 | RAX2 |
Ivone Leong Source NHS GMS was added to RAX2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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