{"count":3,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:32434","gene_name":"solute carrier family 38 member 8","omim_gene":["615585"],"alias_name":null,"gene_symbol":"SLC38A8","hgnc_symbol":"SLC38A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84043272-84076241","ensembl_id":"ENSG00000166558"}},"GRch38":{"90":{"location":"16:84009667-84042636","ensembl_id":"ENSG00000166558"}}},"hgnc_date_symbol_changed":"2008-02-18"},"entity_type":"gene","entity_name":"SLC38A8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24290379","29345414","24045842"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 609218 AR"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:32434","gene_name":"solute carrier family 38 member 8","omim_gene":["615585"],"alias_name":null,"gene_symbol":"SLC38A8","hgnc_symbol":"SLC38A8","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:84043272-84076241","ensembl_id":"ENSG00000166558"}},"GRch38":{"90":{"location":"16:84009667-84042636","ensembl_id":"ENSG00000166558"}}},"hgnc_date_symbol_changed":"2008-02-18"},"entity_type":"gene","entity_name":"SLC38A8","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["24290379","24045842","15466012","24290379","24045842"],"evidence":["NHS GMS","Expert Review Green","Literature"],"phenotypes":["Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:32434","gene_name":"solute carrier family 38 member 8","omim_gene":["615585"],"alias_name":null,"gene_symbol":"SLC38A8","hgnc_symbol":"SLC38A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84043272-84076241","ensembl_id":"ENSG00000166558"}},"GRch38":{"90":{"location":"16:84009667-84042636","ensembl_id":"ENSG00000166558"}}},"hgnc_date_symbol_changed":"2008-02-18"},"entity_type":"gene","entity_name":"SLC38A8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24045842"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218"],"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)"}]}}]}