{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["FLJ23209","bA108L7.8"],"biotype":"protein_coding","hgnc_id":"HGNC:26257","gene_name":"PDZ domain containing 7","omim_gene":["612971"],"alias_name":null,"gene_symbol":"PDZD7","hgnc_symbol":"PDZD7","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:102767440-102790890","ensembl_id":"ENSG00000186862"}},"GRch38":{"90":{"location":"10:101007683-101031157","ensembl_id":"ENSG00000186862"}}},"hgnc_date_symbol_changed":"2006-01-24"},"entity_type":"gene","entity_name":"PDZD7","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":["FLJ23209","bA108L7.8"],"biotype":"protein_coding","hgnc_id":"HGNC:26257","gene_name":"PDZ domain containing 7","omim_gene":["612971"],"alias_name":null,"gene_symbol":"PDZD7","hgnc_symbol":"PDZD7","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:102767440-102790890","ensembl_id":"ENSG00000186862"}},"GRch38":{"90":{"location":"10:101007683-101031157","ensembl_id":"ENSG00000186862"}}},"hgnc_date_symbol_changed":"2006-01-24"},"entity_type":"gene","entity_name":"PDZD7","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID:19028668","20440071","26849169","26416264"],"evidence":["Expert Review Green","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["#605472:Usher syndrome, type IIC, GPR98/PDZD7 digenic","autosomal recessive nonsyndromic hearing loss"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."},{"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)"}]}},{"gene_data":{"alias":["FLJ23209","bA108L7.8"],"biotype":"protein_coding","hgnc_id":"HGNC:26257","gene_name":"PDZ domain containing 7","omim_gene":["612971"],"alias_name":null,"gene_symbol":"PDZD7","hgnc_symbol":"PDZD7","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:102767440-102790890","ensembl_id":"ENSG00000186862"}},"GRch38":{"90":{"location":"10:101007683-101031157","ensembl_id":"ENSG00000186862"}}},"hgnc_date_symbol_changed":"2006-01-24"},"entity_type":"gene","entity_name":"PDZD7","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Eye Disorders"],"mode_of_inheritance":"","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":["FLJ23209","bA108L7.8"],"biotype":"protein_coding","hgnc_id":"HGNC:26257","gene_name":"PDZ domain containing 7","omim_gene":["612971"],"alias_name":null,"gene_symbol":"PDZD7","hgnc_symbol":"PDZD7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102767440-102790890","ensembl_id":"ENSG00000186862"}},"GRch38":{"90":{"location":"10:101007683-101031157","ensembl_id":"ENSG00000186862"}}},"hgnc_date_symbol_changed":"2006-01-24"},"entity_type":"gene","entity_name":"PDZD7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472","Retinal disease in Usher syndrome type IIA, modifier of, 276901","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)"}]}}]}