{"count":13,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26010696","24566826"],"evidence":["Literature"],"phenotypes":["Spinocerebellar ataxia 34\t133190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":215,"hash_id":"562f5e7822c1fc582756e3bb","name":"Palmoplantar keratoderma and erythrokeratodermas","disease_group":"Dermatological disorders","disease_sub_group":"Keratodermas","status":"public","version":"1.16","version_created":"2019-06-20T15:15:14.882420Z","relevant_disorders":[],"stats":{"number_of_genes":45,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","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":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24566826","26010696"],"evidence":["Expert Review Red"],"phenotypes":["Spinocerebellar ataxia 34 133190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":555,"hash_id":null,"name":"Ichthyosis and erythrokeratoderma","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-09-09T15:38:37.080974Z","relevant_disorders":[],"stats":{"number_of_genes":64,"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":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24566826","26010696"],"evidence":["Expert Review Green"],"phenotypes":["Spinocerebellar ataxia 34"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Ichthyosis, spastic quadriplegia, mental retardation"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":556,"hash_id":null,"name":"Palmoplantar keratodermas","disease_group":"","disease_sub_group":"","status":"public","version":"0.9","version_created":"2019-09-09T15:38:38.871976Z","relevant_disorders":[],"stats":{"number_of_genes":69,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26010696","24566826"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia 34\t133190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["5048218","26010696","24566826"],"evidence":["Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Spinocerebellar ataxia 34 133190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"types":[{"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":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"types":[{"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":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22100072"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457","ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":285,"hash_id":"558aa423bb5a16630e15b63c","name":"Intellectual disability","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"2.1065","version_created":"2019-10-07T13:42:16.019766Z","relevant_disorders":["Coarse facial features including Coffin-Siris-like disorders","ID","Moderate","severe or profound intellectual disability","Schizophrenia plus additional features","Intellectual disability - microarray","fragile X and sequencing"],"stats":{"number_of_genes":2253,"number_of_strs":11,"number_of_regions":57},"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24566826","26010696"],"evidence":["London North GLH","NHS GMS","Wessex and West Midlands GLH","Expert Review Green","Hereditary ataxia v1.148"],"phenotypes":["Spinocerebellar ataxia 34, 133190","Spinocerebellar ataxia 34 133190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"number_of_regions":4},"types":[{"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":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Macular dystrophy, autosomal dominant, chromosome 6-linked","Stargardt disease 3","Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457","Stargardt Disease, Dominant","Stargardt disease 3, 600110","Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110","Ichthyosis, spastic quadriplegia, and mental retardation, 614457","Macular Dystrophy/Degeneration/Stargardt Disease","Eye Disorders"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["CT118"],"biotype":"protein_coding","hgnc_id":"HGNC:14415","gene_name":"ELOVL fatty acid elongase 4","omim_gene":["605512"],"alias_name":["cancer/testis antigen 118"],"gene_symbol":"ELOVL4","hgnc_symbol":"ELOVL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80624529-80657297","ensembl_id":"ENSG00000118402"}},"GRch38":{"90":{"location":"6:79914812-79947580","ensembl_id":"ENSG00000118402"}}},"hgnc_date_symbol_changed":"2001-01-18"},"entity_type":"gene","entity_name":"ELOVL4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["Stargardt disease 3, 600110","Eye Disorders"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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)"}]}}]}
