{"count":16,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15146459","26627464","18285423"],"evidence":["Expert Review Green","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Peroxisome biogenesis disorder 13A (Zellweger)\t614887"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15146459","18285423","26627464"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Emory Genetics Laboratory"],"phenotypes":["Peroxisome biogenesis disorder 13A (Zellweger) 614887"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cnv"],"panel":{"id":385,"hash_id":null,"name":"Neonatal cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"Liver disease","status":"public","version":"1.4","version_created":"2019-06-20T15:13:26.764332Z","relevant_disorders":[],"stats":{"number_of_genes":90,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Other"],"phenotypes":["Zellweger, peroxisome biogenesis disorder 13A","Peroxisome biogenesis disorder 13A (Zellweger), 614887"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":"5763f4868f620350a199604f","name":"Fetal hydrops","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Fetal disorders","status":"public","version":"1.16","version_created":"2018-12-05T18:38:09.145885Z","relevant_disorders":[],"stats":{"number_of_genes":67,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["15146459"],"evidence":["Expert Review Amber"],"phenotypes":["Peroxisome-Associated Disorders & Zellweger Syndrome","PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Peroxisome biogenesis disorder"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","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":["Peroxisome biogenesis disorder 13A (Zellweger), 614887"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen, Expert list"],"phenotypes":["Peroxisome biogenesis disorder 13A (Zellweger) (614887)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":"58c8066b8f6203413360f1cf","name":"Ductal plate malformation","disease_group":"","disease_sub_group":"","status":"public","version":"1.10","version_created":"2019-06-20T15:10:58.988548Z","relevant_disorders":["Ductal plate malformation (DPM)","Polycystic liver disease"],"stats":{"number_of_genes":150,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308"],"evidence":["Literature","Expert Review Green"],"phenotypes":["Disorders of peroxisome biogenesis","Peroxisome biogenesis disorder 13A (Zellweger), 614887"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":96,"hash_id":"568f8ba422c1fc1c79ca1774","name":"Malformations of cortical development","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodevelopmental disorders","status":"public","version":"1.171","version_created":"2019-08-12T12:05:00.638492Z","relevant_disorders":[],"stats":{"number_of_genes":74,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["15146459"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Peroxisome-Associated Disorders & Zellweger Syndrome","PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["20301621"],"evidence":["Expert Review Green","Emory Genetics Laboratory","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Peroxisome biogenesis disorder 11A (Zellweger)   614883"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Disorders of peroxisome biogenesis","Peroxisome biogenesis disorder 13A (Zellweger)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Disorders of peroxisome biogenesis","Peroxisome biogenesis disorder 13A (Zellweger)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K","ZELLWEGER SYNDROME"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ZELLWEGER SYNDROME 214100","PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["0"],"evidence":["Expert Review Green"],"phenotypes":["ZELLWEGER SYNDROME (ZWS)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Peroxisome biogenesis disorder 13A (Zellweger), 614887"],"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)"}]}}]}
