{"count":15,"next":null,"previous":null,"results":[{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25655951"],"evidence":["Expert Review Green","Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen","Expert list","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Adrenoleukodystrophy 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["gene-therapy-trial"],"panel":{"id":114,"hash_id":"57b6f5058f6203767a308772","name":"Peroxisomal disorders","disease_group":"Metabolic disorders","disease_sub_group":"Peroxisomal disorders","status":"public","version":"1.6","version_created":"2017-11-05T02:37:20.056128Z","relevant_disorders":["Other peroxisomal disorders","Peroxisomal biogenesis disorders"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","ClinicalTrials.gov"],"phenotypes":["Cerebral Adrenoleukodystrophy (CALD)"],"mode_of_inheritance":"","tags":[],"panel":{"id":412,"hash_id":null,"name":"Gene therapy clinical trials","disease_group":"Actionable information","disease_sub_group":"Clinical trials","status":"public","version":"0.7","version_created":"2019-06-20T15:11:44.609881Z","relevant_disorders":[],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Actionable","slug":"actionable","description":"Actionable"}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert list"],"phenotypes":["X-linked adrenoleukodystrophy"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["gene-therapy-trial"],"panel":{"id":145,"hash_id":"55bf785822c1fc0fe45530bf","name":"Congenital adrenal hypoplasia","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","status":"public","version":"2.0","version_created":"2019-07-31T14:08:52.172447Z","relevant_disorders":["R150"],"stats":{"number_of_genes":20,"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."}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8040304","11810273","25655951"],"evidence":["Expert Review Green"],"phenotypes":["Adrenomyeloneuropathy, adult, 300100","Adrenoleukodystrophy, X-linked","Adrenoleukodystrophy","Adrenoleukodystrophy, 300100","X-Linked Adrenoleukodystrophy"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27159321","25527826","28334938","20301621","24357685"],"evidence":["Expert Review Green","NHS GMS","Yorkshire and North East GLH"],"phenotypes":["Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":579,"hash_id":null,"name":"White matter disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.21","version_created":"2019-09-13T16:22:23.981754Z","relevant_disorders":["R62"],"stats":{"number_of_genes":77,"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)"}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25655951","8040304","11810273"],"evidence":["Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Adrenoleukodystrophy, 300100","Adrenomyeloneuropathy, adult, 300100","X-Linked Adrenoleukodystrophy","Adrenoleukodystrophy, X-linked","Adrenoleukodystrophy"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["gene-therapy-trial"],"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":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["11810273","27084228","11739809","26049658","23664929"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hereditary spastic paraplegia","adrenal failure","VLCFA accumulation","spastic paraparesis","Adrenoleukodystrophy, 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":165,"hash_id":"55ad019f22c1fc7042059038","name":"Hereditary spastic paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.205","version_created":"2019-06-20T15:15:08.031188Z","relevant_disorders":[],"stats":{"number_of_genes":109,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23664929","11739809","26049658","27084228","11810273","61263","17372139"],"evidence":["Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green","Literature"],"phenotypes":["spastic paraparesis","VLCFA accumulation","adrenal failure","Hereditary spastic paraplegia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":568,"hash_id":null,"name":"Hereditary spastic paraplegia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.179","version_created":"2019-09-30T12:40:08.803161Z","relevant_disorders":["Childhood onset hereditary spastic paraplegia;R61"],"stats":{"number_of_genes":98,"number_of_strs":10,"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":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["61263","17372139"],"evidence":["Yorkshire and North East GLH","Expert Review Green","NHS GMS","London North GLH"],"phenotypes":["spastic paraparesis","Hereditary spastic paraplegia","adrenal failure","VLCFA accumulation","Adrenoleukodystrophy, 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":567,"hash_id":null,"name":"Hereditary spastic paraplegia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"0.156","version_created":"2019-09-30T12:38:14.427158Z","relevant_disorders":["R60"],"stats":{"number_of_genes":97,"number_of_strs":10,"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)"}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11810273","27084228","11739809","26049658","23664929"],"evidence":["Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH","Expert Review Green","Expert list"],"phenotypes":["Hereditary spastic paraplegia","adrenal failure","VLCFA accumulation","spastic paraparesis"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation)","Adrenoleukodystrophy 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":["gene-therapy-trial"],"panel":{"id":302,"hash_id":"5763f1518f620350a22bccdb","name":"Undiagnosed metabolic disorders","disease_group":"Metabolic disorders","disease_sub_group":"Specific metabolic abnormalities","status":"public","version":"1.373","version_created":"2019-10-08T14:47:17.153678Z","relevant_disorders":["Undiagnosed Metabolic Panel"],"stats":{"number_of_genes":744,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["X-linked adrenoleukodystrophy (Disorders of peroxisomal alpha-, beta and omega-oxidation)","Adrenoleukodystrophy 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":467,"hash_id":null,"name":"Inborn errors of metabolism","disease_group":"","disease_sub_group":"","status":"public","version":"1.348","version_created":"2019-10-09T08:19:52.386941Z","relevant_disorders":["Likely inborn error of metabolism - targeted testing not possible"],"stats":{"number_of_genes":877,"number_of_strs":2,"number_of_regions":1},"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."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["ADRENOLEUKODYSTROPHY, X-LINKED"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","DD-Gene2Phenotype"],"phenotypes":["ADRENOLEUKODYSTROPHY, X-LINKED 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen"],"phenotypes":["Adrenoleukodystrophy, 300100","Adrenomyeloneuropathy, adult, 300100","ADRENOLEUKODYSTROPHY, X-LINKED"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["gene-therapy-trial"],"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"}]}}]}
