{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27657680","22875945"],"evidence":["ClinGen","Expert Review Amber","Other"],"phenotypes":["Sensorineural Hearing Loss","ORPHA90636","OMIM:612186"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":64,"hash_id":"58ee38f88f62033bda307d54","name":"ClinGen Gene Validity Curations","disease_group":"","disease_sub_group":"","status":"public","version":"0.64","version_created":"2019-06-20T15:10:34.572009Z","relevant_disorders":[],"stats":{"number_of_genes":47,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"ClinGen Curated genes","slug":"clingen-curated-genes","description":"ClinGen Curated genes"}]}},{"gene_data":{"alias":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27657680","22875945","25248098"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Sensorineural Hearing Loss","ORPHA90636","OMIM:612186"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":26,"hash_id":"55a9238422c1fc6711b0c6c3","name":"Diabetes with additional phenotypes suggestive of a monogenic aetiology","disease_group":"Endocrine disorders","disease_sub_group":"Disorders of unusual phenotypes","status":"public","version":"1.59","version_created":"2019-06-20T15:15:00.936648Z","relevant_disorders":[],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25248098","22875945","27657680"],"evidence":["Expert Review Amber"],"phenotypes":["Sensorineural Hearing Loss","ORPHA90636","OMIM:612186"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":477,"hash_id":null,"name":"Ataxia and cerebellar anomalies - narrow panel","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-09-20T16:56:48.672242Z","relevant_disorders":[],"stats":{"number_of_genes":199,"number_of_strs":13,"number_of_regions":3},"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":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27657680","22875945","25248098"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Sensorineural Hearing Loss","ORPHA90636","OMIM:612186"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":20,"hash_id":"559a7d1022c1fc58ad67fc97","name":"Hereditary ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.202","version_created":"2019-06-20T15:15:07.878228Z","relevant_disorders":[],"stats":{"number_of_genes":160,"number_of_strs":14,"number_of_regions":3},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","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":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":["22875945","27657680","25248098"],"evidence":["Expert Review Removed"],"phenotypes":["ORPHA90636","OMIM:612186","Sensorineural Hearing Loss"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":472,"hash_id":null,"name":"Monogenic diabetes","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T13:20:07.800002Z","relevant_disorders":["R141"],"stats":{"number_of_genes":77,"number_of_strs":0,"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":"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":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25248098","22875945","27657680"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","London North GLH","NHS GMS","South West GLH"],"phenotypes":["Sensorineural Hearing Loss","ORPHA90636","OMIM:612186"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27657680","22875945","25248098"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Sensorineural Hearing Loss","ORPHA90636","OMIM:612186"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"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."},{"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":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25248098"],"evidence":["Expert Review Red","Expert Review Amber","Other"],"phenotypes":["Sensorineural Hearing Loss","ORPHA90636","OMIM:612186"],"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":["RC3","KIAA0856","DFNA71"],"biotype":"protein_coding","hgnc_id":"HGNC:2938","gene_name":"Dmx like 2","omim_gene":["612186"],"alias_name":["rabconnectin 3"],"gene_symbol":"DMXL2","hgnc_symbol":"DMXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51739908-51915030","ensembl_id":"ENSG00000104093"}},"GRch38":{"90":{"location":"15:51447711-51622833","ensembl_id":"ENSG00000104093"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DMXL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22875945","27657680","25248098"],"evidence":["Expert Review Red","NHS GMS","Wessex and West Midlands GLH","Hereditary ataxia v1.148"],"phenotypes":["Sensorineural Hearing Loss","OMIM:612186","Polyendocrine-polyneuropathy syndrome, 616113","ORPHA90636"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":466,"hash_id":null,"name":"Hereditary ataxia - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.211","version_created":"2019-09-20T14:18:40.957460Z","relevant_disorders":["Hereditary ataxia with onset in adulthood","R54"],"stats":{"number_of_genes":236,"number_of_strs":13,"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."}]}}]}
