{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Oculocutaneous Albinism","Albinism, brown oculocutaneous","Albinism, oculocutaneous, type II","Skin/hair/eye pigmentation 1, blond/brown hair","Skin/hair/eye pigmentation 1, blue/nonblue eyes"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":246,"hash_id":"563242a422c1fc582756e3cd","name":"Infantile nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular movement disorders","status":"public","version":"1.3","version_created":"2019-06-20T15:12:30.313760Z","relevant_disorders":[],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Oculocutaneous Albinism","Albinism, brown oculocutaneous","Albinism, oculocutaneous, type II","Skin/hair/eye pigmentation 1, blond/brown hair","Skin/hair/eye pigmentation 1, blue/nonblue eyes"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":128,"hash_id":"5763f1118f620350a22bccda","name":"Ocular and oculo-cutaneous albinism","disease_group":"","disease_sub_group":"","status":"public","version":"1.21","version_created":"2019-06-20T15:13:41.618714Z","relevant_disorders":[],"stats":{"number_of_genes":15,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","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":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Oculocutaneous albinism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"number_of_regions":1},"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Skin/hair/eye pigmentation 1, blue/nonblue eyes","Albinism, brown oculocutaneous","Albinism, oculocutaneous, type II","Skin/hair/eye pigmentation 1, blond/brown hair","Oculocutaneous Albinism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":511,"hash_id":null,"name":"Albinism or congenital nystagmus","disease_group":"","disease_sub_group":"","status":"public","version":"1.0","version_created":"2019-08-05T09:16:46.441760Z","relevant_disorders":["R39"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"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)"},{"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."}]}},{"gene_data":{"alias":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","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":["BEY2","EYCL","BEY","BEY1"],"biotype":"protein_coding","hgnc_id":"HGNC:8101","gene_name":"OCA2 melanosomal transmembrane protein","omim_gene":["611409"],"alias_name":["melanocyte-specific transporter protein","P-protein"],"gene_symbol":"OCA2","hgnc_symbol":"OCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:28000021-28344504","ensembl_id":"ENSG00000104044"}},"GRch38":{"90":{"location":"15:27754875-28099358","ensembl_id":"ENSG00000104044"}}},"hgnc_date_symbol_changed":"1993-02-05"},"entity_type":"gene","entity_name":"OCA2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Albinism, brown oculocutaneous, 203200","[Skin/hair/eye pigmentation 1, blue/nonblue eyes]","Albinism oculocutaneous, type II","[Skin/hair/eye pigmentation 1, blond/brown hair], 227220","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)"}]}}]}
