{"count":11,"next":null,"previous":null,"results":[{"gene_data":{"alias":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Expert list"],"phenotypes":["CHILD syndrome 308050 XLD","CK syndrome 300831 XLR"],"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":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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["CHILD syndrome"],"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":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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["CHILD syndrome"],"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":565,"hash_id":null,"name":"Rare genetic inflammatory skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.14","version_created":"2019-09-09T15:38:40.627314Z","relevant_disorders":[],"stats":{"number_of_genes":60,"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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","UKGTN","Expert list","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen",""],"phenotypes":["Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050","CK syndrome 300831"],"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":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis)","CHILD syndrome 308050 XLD","CK syndrome 300831 XLR"],"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":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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["London North GLH","NHS GMS","Expert Review Green"],"phenotypes":["Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis)","CHILD syndrome 308050 XLD","CK syndrome 300831 XLR"],"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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS","CK SYNDROME"],"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":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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11907515","10710235"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["CK SYNDROME 300831","CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050"],"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":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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19377476","19842190","25900314"],"evidence":["Wessex and West Midlands GLH","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["CK syndrome 300831"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":402,"hash_id":null,"name":"Genetic epilepsy syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Inherited Epilepsy Syndromes","status":"public","version":"1.363","version_created":"2019-10-08T10:06:11.607307Z","relevant_disorders":["Epilepsy Plus","Epilepsy plus other features","Genetic Epilepsy Syndromes","Epileptic encephalopathy","Familial Focal Epilepsies","Familial Genetic Generalised Epilepsies","Genetic Epilepsies with Febrile Seizures Plus (GEFS+)","Genetic Epilepsies with Febrile Seizures Plus"],"stats":{"number_of_genes":614,"number_of_strs":2,"number_of_regions":13},"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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory"],"phenotypes":["CHILD syndrome, 308050CK syndrome, 300831","CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (CHILD)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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"}]}}]}