{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["DKFZp434A2417","KIAA1996"],"biotype":"protein_coding","hgnc_id":"HGNC:23338","gene_name":"acyl-CoA binding domain containing 5","omim_gene":["616618"],"alias_name":null,"gene_symbol":"ACBD5","hgnc_symbol":"ACBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27484146-27531059","ensembl_id":"ENSG00000107897"}},"GRch38":{"90":{"location":"10:27195214-27242130","ensembl_id":"ENSG00000107897"}}},"hgnc_date_symbol_changed":"2003-11-11"},"entity_type":"gene","entity_name":"ACBD5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27799409, 27899449, 23105016"],"evidence":["Expert Review Red"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":476,"hash_id":null,"name":"White matter disorders and cerebral calcification - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.9","version_created":"2019-08-08T11:56:25.970239Z","relevant_disorders":[],"stats":{"number_of_genes":191,"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":["DKFZp434A2417","KIAA1996"],"biotype":"protein_coding","hgnc_id":"HGNC:23338","gene_name":"acyl-CoA binding domain containing 5","omim_gene":["616618"],"alias_name":null,"gene_symbol":"ACBD5","hgnc_symbol":"ACBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27484146-27531059","ensembl_id":"ENSG00000107897"}},"GRch38":{"90":{"location":"10:27195214-27242130","ensembl_id":"ENSG00000107897"}}},"hgnc_date_symbol_changed":"2003-11-11"},"entity_type":"gene","entity_name":"ACBD5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27799409, 27899449, 23105016"],"evidence":["Expert Review Red","Literature"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["DKFZp434A2417","KIAA1996"],"biotype":"protein_coding","hgnc_id":"HGNC:23338","gene_name":"acyl-CoA binding domain containing 5","omim_gene":["616618"],"alias_name":null,"gene_symbol":"ACBD5","hgnc_symbol":"ACBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27484146-27531059","ensembl_id":"ENSG00000107897"}},"GRch38":{"90":{"location":"10:27195214-27242130","ensembl_id":"ENSG00000107897"}}},"hgnc_date_symbol_changed":"2003-11-11"},"entity_type":"gene","entity_name":"ACBD5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Victorian Clinical Genetics Services"],"phenotypes":["Cleft palate"],"mode_of_inheritance":"","tags":[],"panel":{"id":81,"hash_id":"57acb8268f620364dc61afd3","name":"Clefting","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","status":"public","version":"1.59","version_created":"2019-09-03T09:03:20.170928Z","relevant_disorders":["Familial non-syndromic cleft lip and or familial cleft palate","Familial non-syndromic clefting","Syndromic cleft lip and or cleft palate","Syndromic clefting"],"stats":{"number_of_genes":258,"number_of_strs":0,"number_of_regions":5},"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":["DKFZp434A2417","KIAA1996"],"biotype":"protein_coding","hgnc_id":"HGNC:23338","gene_name":"acyl-CoA binding domain containing 5","omim_gene":["616618"],"alias_name":null,"gene_symbol":"ACBD5","hgnc_symbol":"ACBD5","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:27484146-27531059","ensembl_id":"ENSG00000107897"}},"GRch38":{"90":{"location":"10:27195214-27242130","ensembl_id":"ENSG00000107897"}}},"hgnc_date_symbol_changed":"2003-11-11"},"entity_type":"gene","entity_name":"ACBD5","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["Abu-Safieh et al Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res. 2013 Feb","23(2):236-47 PMID: 23105016"],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["No OMIM disease ID","novel variant reported in PMID: 23105016 in family with cone-rod dystrophyand psychomotor delay associated with significant white matter involvement"],"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."}]}}]}