{"count":15,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 24527667","24664873","22197486","22197486","23076834","24633898","24664873"],"evidence":["Expert Review Green","Emory Genetics Laboratory","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Kabuki syndrome 2","Kabuki Syndrome Type 2"],"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":173,"hash_id":"5549d5c4bb5a1630f22d5886","name":"Kabuki syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Kabuki","status":"public","version":"1.2","version_created":"2017-11-05T02:37:20.165958Z","relevant_disorders":[],"stats":{"number_of_genes":4,"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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Kabuki"],"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":131,"hash_id":"553f9744bb5a1616e5ed45e8","name":"IUGR and IGF abnormalities","disease_group":"Endocrine disorders","disease_sub_group":"Growth hormone disorders","status":"public","version":"1.29","version_created":"2019-08-05T14:01:03.716110Z","relevant_disorders":[],"stats":{"number_of_genes":110,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","Expert list"],"phenotypes":["Bilateral Microtia","Kabuki syndrome 2"],"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":251,"hash_id":"57f4dbd18f62036d37cfe4e4","name":"Deafness and congenital structural abnormalities","disease_group":"Hearing and ear disorders","disease_sub_group":"Deafness and congenital structural abnormalities","status":"public","version":"1.17","version_created":"2019-06-20T15:10:56.166309Z","relevant_disorders":["Bilateral microtia","Ear malformations with hearing impairment","Ear malformations","Familial hemifacial microsomia"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29907798"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Kabuki syndrome 2, 300867","X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":308,"hash_id":"553f9781bb5a1616e5ed45f4","name":"Congenital hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"2.0","version_created":"2019-07-31T13:49:21.556866Z","relevant_disorders":["Hyperinsulinism","R144"],"stats":{"number_of_genes":19,"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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26411453","25546742","15887282","25142838","15523604"],"evidence":["Expert Review Red","IUIS Classification February 2018"],"phenotypes":["Kabuki Syndrome 2 due to KDM6A deficiency","Combined immunodeficiencies with associated or syndromic features"],"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":398,"hash_id":null,"name":"Primary immunodeficiency","disease_group":"","disease_sub_group":"","status":"public","version":"1.132","version_created":"2019-09-27T14:37:49.085568Z","relevant_disorders":["Primary immunodeficiency disorders","A- or hypo-gammaglobulinaemia","Congenital neutropaenia","Agranulocytosis","Combined B and T cell defect","Inherited complement deficiency","SCID","Primary immune disorder","Primary immunodeficiency","A-gammaglobulinaemia","Agammaglobulinaemia","hypo-gammaglobulinaemia","hypogammaglobulinemia","immune deficiency syndromes","Severe combined immunodeficiency","Congenital neutopenia","Familial haemophagocytic lymphohistiocytic disorders","Familial hemophagocytic lymphohistiocytic disorders","PID","Sepsis","Disseminated non-tuberculous mycobacterial infection","R15"],"stats":{"number_of_genes":395,"number_of_strs":0,"number_of_regions":2},"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20212079","26185613","23042784","24267887","26166478","25989142","24090431","24581740","26167905","23999528","25294932"],"evidence":["Expert Review Amber","SFARI"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":657,"hash_id":null,"name":"Autism","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-06-20T15:10:14.437740Z","relevant_disorders":[],"stats":{"number_of_genes":733,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Research","slug":"research","description":"This is a gene panel used for research."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BRIDGE consortium (NIHRBR-RD)"],"phenotypes":["Acute myeloid leukaemia (AML)"],"mode_of_inheritance":"Unknown","tags":["somatic"],"panel":{"id":159,"hash_id":"58a70e858f62037e8779b2e8","name":"Cytopenias and congenital anaemias","disease_group":"Haematological disorders","disease_sub_group":"Anaemias and red cell disorders","status":"public","version":"1.73","version_created":"2019-09-23T11:25:32.403071Z","relevant_disorders":["Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria","Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria","Congenital anaemias","Early onset pancytopenia and red cell disorders","Anaemias and red cell disorders","Cytopaenias and congenital anaemias","Cytopenia and pancytopenia"],"stats":{"number_of_genes":219,"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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["KABUKI SYNDROME 2"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Kabuki syndrome 2 300867"],"mode_of_inheritance":"","tags":[],"panel":{"id":168,"hash_id":"55b605f722c1fc05fd2345af","name":"Craniosynostosis","disease_group":"Skeletal disorders","disease_sub_group":"Craniosynostosis syndromes","status":"public","version":"2.0","version_created":"2019-09-17T13:00:09.542482Z","relevant_disorders":["Craniosynostosis syndromes","Craniosynostosis syndromes phenotypes","Rare syndromic craniosynostosis or isolated multisuture synostosis","R100"],"stats":{"number_of_genes":114,"number_of_strs":0,"number_of_regions":2},"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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"0","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Emory Genetics Laboratory"],"phenotypes":["Proportionate Short Stature/Small for Gestational Age"],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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":"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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23076834","22197486"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["KABUKI SYNDROME 2 300867"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22197486","23076834","24664873"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Expert Review"],"phenotypes":["Kabuki syndrome 2, 300867"],"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":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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Kabuki"],"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":473,"hash_id":null,"name":"Growth failure in early childhood","disease_group":"","disease_sub_group":"","status":"public","version":"1.3","version_created":"2019-08-14T09:11:49.488162Z","relevant_disorders":["R147"],"stats":{"number_of_genes":126,"number_of_strs":0,"number_of_regions":5},"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":"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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Eligibility statement prior genetic testing","Radboud University Medical Center, Nijmegen"],"phenotypes":["Kabuki syndrome 2, 300867","Kabuki syndrome","KABUKI SYNDROME 2","KABUK2"],"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":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:12637","gene_name":"lysine demethylase 6A","omim_gene":["300128"],"alias_name":null,"gene_symbol":"KDM6A","hgnc_symbol":"KDM6A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:44732757-44971847","ensembl_id":"ENSG00000147050"}},"GRch38":{"90":{"location":"X:44873177-45112602","ensembl_id":"ENSG00000147050"}}},"hgnc_date_symbol_changed":"2009-04-17"},"entity_type":"gene","entity_name":"KDM6A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29617172","29300383"],"evidence":["NHS GMS","Expert Review Amber","London North GLH"],"phenotypes":["Kabuki Syndrome 2, KABUK2, 300867"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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)"}]}}]}
