{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["IKAP","TOT1","IKI3"],"biotype":"protein_coding","hgnc_id":"HGNC:5959","gene_name":"elongator complex protein 1","omim_gene":["603722"],"alias_name":["elongator acetyltransferase complex subunit 1"],"gene_symbol":"ELP1","hgnc_symbol":"ELP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:111629797-111696396","ensembl_id":"ENSG00000070061"}},"GRch38":{"90":{"location":"9:108867517-108934116","ensembl_id":"ENSG00000070061"}}},"hgnc_date_symbol_changed":"2017-05-04"},"entity_type":"gene","entity_name":"ELP1","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["28543993","20361209","25717236"],"evidence":["Expert Review Red","Literature"],"phenotypes":["risk of HSCR","Hirschsprung disease (HSCR)"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":63,"hash_id":"58c7f5008f620328d77ce70f","name":"Familial Hirschsprung Disease","disease_group":"Gastroenterological disorders","disease_sub_group":"Gastrointestinal disorders","status":"public","version":"1.6","version_created":"2019-06-20T15:11:10.292595Z","relevant_disorders":[],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["IKAP","TOT1","IKI3"],"biotype":"protein_coding","hgnc_id":"HGNC:5959","gene_name":"elongator complex protein 1","omim_gene":["603722"],"alias_name":["elongator acetyltransferase complex subunit 1"],"gene_symbol":"ELP1","hgnc_symbol":"ELP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:111629797-111696396","ensembl_id":"ENSG00000070061"}},"GRch38":{"90":{"location":"9:108867517-108934116","ensembl_id":"ENSG00000070061"}}},"hgnc_date_symbol_changed":"2017-05-04"},"entity_type":"gene","entity_name":"ELP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["11179008","27317387","10090896","26769677","12687659"],"evidence":["Expert Review Green","UKGTN","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Familial Dysautonomia","Neuropathy, hereditary sensory and autonomic, type 3","Riley-Day Syndrome 223900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":7,"hash_id":"5763f1d68f620350a22bccdc","name":"Familial dysautonomia","disease_group":"","disease_sub_group":"","status":"public","version":"1.7","version_created":"2019-07-09T09:43:16.135987Z","relevant_disorders":[],"stats":{"number_of_genes":22,"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."}]}},{"gene_data":{"alias":["IKAP","TOT1","IKI3"],"biotype":"protein_coding","hgnc_id":"HGNC:5959","gene_name":"elongator complex protein 1","omim_gene":["603722"],"alias_name":["elongator acetyltransferase complex subunit 1"],"gene_symbol":"ELP1","hgnc_symbol":"ELP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:111629797-111696396","ensembl_id":"ENSG00000070061"}},"GRch38":{"90":{"location":"9:108867517-108934116","ensembl_id":"ENSG00000070061"}}},"hgnc_date_symbol_changed":"2017-05-04"},"entity_type":"gene","entity_name":"ELP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["8102296","11179021","11179008","17985250"],"evidence":["Expert Review Green","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services","BRIDGE Study Tier 1 Gene"],"phenotypes":["Familial dysautonomia","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III","Dysautonomia, familial, 223900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":288,"hash_id":"59621a1c8f62036f45d561a3","name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Channelopathies","status":"public","version":"1.8","version_created":"2019-10-08T10:46:35.875259Z","relevant_disorders":["neuropathic pain","Pain channelopathies"],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["IKAP","TOT1","IKI3"],"biotype":"protein_coding","hgnc_id":"HGNC:5959","gene_name":"elongator complex protein 1","omim_gene":["603722"],"alias_name":["elongator acetyltransferase complex subunit 1"],"gene_symbol":"ELP1","hgnc_symbol":"ELP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:111629797-111696396","ensembl_id":"ENSG00000070061"}},"GRch38":{"90":{"location":"9:108867517-108934116","ensembl_id":"ENSG00000070061"}}},"hgnc_date_symbol_changed":"2017-05-04"},"entity_type":"gene","entity_name":"ELP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11179021","11179008","17985250","8102296"],"evidence":["Expert Review Red","NHS GMS","London North GLH","Wessex and West Midlands GLH"],"phenotypes":["Neuropathy, Hereditary Sensory and Autonomic, Type III","Familial dysautonomia","Dysautonomia, familial, 223900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":541,"hash_id":null,"name":"Paroxysmal central nervous system disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.168","version_created":"2019-10-01T13:39:46.962209Z","relevant_disorders":["Paroxysmal neurological disorders","pain disorders and sleep disorders"],"stats":{"number_of_genes":83,"number_of_strs":5,"number_of_regions":1},"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":["IKAP","TOT1","IKI3"],"biotype":"protein_coding","hgnc_id":"HGNC:5959","gene_name":"elongator complex protein 1","omim_gene":["603722"],"alias_name":["elongator acetyltransferase complex subunit 1"],"gene_symbol":"ELP1","hgnc_symbol":"ELP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:111629797-111696396","ensembl_id":"ENSG00000070061"}},"GRch38":{"90":{"location":"9:108867517-108934116","ensembl_id":"ENSG00000070061"}}},"hgnc_date_symbol_changed":"2017-05-04"},"entity_type":"gene","entity_name":"ELP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26392352"],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Emory Genetics Laboratory","UKGTN","Expert list"],"phenotypes":["Dysautonomia, familial, 223900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"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."}]}}]}
