{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":["D10S64","D10S65","D10S66","RP66"],"biotype":null,"hgnc_id":"HGNC:9921","gene_name":"retinol binding protein 3","omim_gene":["180290"],"alias_name":["interstitial retinol-binding protein 3"],"gene_symbol":"RBP3","hgnc_symbol":"RBP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:48381487-48390991","ensembl_id":"ENSG00000107618"}},"GRch38":{"90":{"location":"10:47348371-47357875","ensembl_id":"ENSG00000265203"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RBP3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","tags":[],"panel":{"id":249,"hash_id":"55507b25bb5a161bf644a3b2","name":"Glaucoma (developmental)","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"1.5","version_created":"2019-06-20T15:15:07.662717Z","relevant_disorders":[],"stats":{"number_of_genes":224,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["D10S64","D10S65","D10S66","RP66"],"biotype":null,"hgnc_id":"HGNC:9921","gene_name":"retinol binding protein 3","omim_gene":["180290"],"alias_name":["interstitial retinol-binding protein 3"],"gene_symbol":"RBP3","hgnc_symbol":"RBP3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:48381487-48390991","ensembl_id":"ENSG00000107618"}},"GRch38":{"90":{"location":"10:47348371-47357875","ensembl_id":"ENSG00000265203"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RBP3","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["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."],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Eye Disorders","Retinitis Pigmentosa, Recessive","Retinitis pigmentosa","?Retinitis pigmentosa 66, 615233"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":307,"hash_id":"56e0238b22c1fc09c97a6e46","name":"Retinal disorders","disease_group":"Ophthalmological disorders","disease_sub_group":"Posterior segment abnormalities","status":"public","version":"1.199","version_created":"2019-10-08T09:22:18.436205Z","relevant_disorders":["Posterior segment abnormalities","Cone Dysfunction Syndrome","Developmental macular and foveal dystrophy","Inherited macular dystrophy","Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy","Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy","Rod Dysfunction Syndrome","Rod-cone dystrophy","Familial exudative vitreoretinopathy","Familial exudative retinopathy","R32","R33","R34","R35"],"stats":{"number_of_genes":320,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."}]}},{"gene_data":{"alias":["D10S64","D10S65","D10S66","RP66"],"biotype":null,"hgnc_id":"HGNC:9921","gene_name":"retinol binding protein 3","omim_gene":["180290"],"alias_name":["interstitial retinol-binding protein 3"],"gene_symbol":"RBP3","hgnc_symbol":"RBP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:48381487-48390991","ensembl_id":"ENSG00000107618"}},"GRch38":{"90":{"location":"10:47348371-47357875","ensembl_id":"ENSG00000265203"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"RBP3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["?Retinitis pigmentosa 66, 615233","Eye Disorders"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}}]}