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Retinal disorders v8.97 RLBP1 Eleanor Williams Tag Q3_25_MOI was removed from gene: RLBP1.
Retinal disorders v8.97 RLBP1 Eleanor Williams commented on gene: RLBP1
Retinal disorders v8.96 RLBP1 Eleanor Williams Mode of inheritance for gene RLBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.50 RLBP1 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: All patients reported with the four different, but related phenotypes (MIMs #607475, #136880 & #607476) were identified with biallelic RLBP1 variants. There are no published reports associating monoallelic RLBP1 variants with any relevant phenotype. Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.
Retinal disorders v8.50 RLBP1 Achchuthan Shanmugasundram Mode of inheritance for gene: RLBP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v8.49 RLBP1 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: RLBP1.
Retinal disorders v8.49 RLBP1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotypes accessed on 15 October 2025.
Retinal disorders v8.49 RLBP1 Achchuthan Shanmugasundram Phenotypes for gene: RLBP1 were changed from Bothnia retinal dystrophy; Fundus albipunctatus; Newfoundland rod - cone dystrophy; Retinitis punctata albescens; Fundus albipunctatus, 136880; Fundus Albipunctatus; Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Fundus albipunctatus, OMIM:136880; Retinitis punctata albescens, OMIM:136880; Bothnia retinal dystrophy, OMIM:607475; Newfoundland rod-cone dystrophy, OMIM:607476
Retinal disorders v8.48 RLBP1 Achchuthan Shanmugasundram Publications for gene: RLBP1 were set to
Retinal disorders v8.47 RLBP1 Achchuthan Shanmugasundram reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11176989, 11868161, 11453974, 21447491, 32345050, 37883093; Phenotypes: Fundus albipunctatus, OMIM:136880, Retinitis punctata albescens, OMIM:136880, Bothnia retinal dystrophy, OMIM:607475, Newfoundland rod-cone dystrophy, OMIM:607476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v8.1 RLBP1 Cassandra Smith reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 RLBP1 Gavin Arno reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.137 RLBP1 Ivone Leong Source NHS GMS was added to RLBP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders RLBP1 BRIDGE consortium reviewed RLBP1