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| Retinal disorders v8.4 | RBP3 | Arina Puzriakova Phenotypes for gene: RBP3 were changed from Retinitis pigmentosa 66 , OMIM:615233 to Retinitis pigmentosa 66, OMIM:615233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.3 | RBP3 | Arina Puzriakova Publications for gene: RBP3 were set to Review of the literature from Stephanie Barton - Arno et al (2015) Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. Invest Ophthalmol Vis Sci. Apr; 56(4):2358-65: Two novel homozygous nonsense mutations (c.1530T>A; p.Y510* and c.3454G>T; p.E1152*) in RBP3 were identified in four patients from two families. All four patients had a similar, unusual retinal dystrophy characterized by childhood onset high myopia, generalized rod and cone dysfunction, and an unremarkable fundus appearance. The FAF imaging showed multiple paracentral foci of low autofluorescence in one patient and patchy increased FAF in the region of the vascular arcades in another. The OCT showed loss of outer retinal bands over peripheral macular areas in all 4 cases; Abu-Safieh et al (2013) Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. Feb; 23(2):236-47; NM_002900.2 RBP3 :c.1162C>T; p.(Arg388*) identified in homozygous state in patient with sporadic RP; Li et al (2013) Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). J Biol Chem. Apr 19; 288(16):11395-406: Functional studies to assess pathogenicity of a missense change, D1080N, that was identified in a homozygous state in a patient with ARRP by Den Hollander et al 2009. The mutation abolished IRBP secretion and induced endoplasmic reticulum stress by forming insoluble IRBP-containing complexes via disulfide bonds. Conclude that Loss of normal function and gain of cytotoxic function are the likely mechanisms for retinal degeneration. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.2 | RBP3 | Arina Puzriakova Phenotypes for gene: RBP3 were changed from Eye Disorders; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa; ?Retinitis pigmentosa 66, 615233 to Retinitis pigmentosa 66 , OMIM:615233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | RBP3 | Dmitrijs Rots changed review comment from: Fresh evidence or IRD & high myopia in 37806543; to: Fresh evidence of IRD & high myopia in 37806543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v6.1 | RBP3 | Dmitrijs Rots reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37806543; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.159 | RBP3 | Gavin Arno reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.137 | RBP3 |
Ivone Leong Source NHS GMS was added to RBP3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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