{"count":7,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RAD30A","XP-V"],"biotype":"protein_coding","hgnc_id":"HGNC:9181","gene_name":"DNA polymerase eta","omim_gene":["603968"],"alias_name":null,"gene_symbol":"POLH","hgnc_symbol":"POLH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:43543887-43586701","ensembl_id":"ENSG00000170734"}},"GRch38":{"90":{"location":"6:43576150-43615660","ensembl_id":"ENSG00000170734"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"POLH","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["27664908","27004399","25256075","25128761","24877075","24260050","24130121","23755135","23651273"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen"],"phenotypes":["Xeroderma pigmentosum, variant type, 278750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deletions"],"panel":{"id":77,"hash_id":"5811a8738f620323c5766a2b","name":"Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.8","version_created":"2019-06-20T15:15:18.560915Z","relevant_disorders":["Cockayne and Xeroderma Pigmentosum-like disorders","Cockayne syndrome","Xeroderma Pigmentosum-like disorders","XP-like disorders"],"stats":{"number_of_genes":17,"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)"}]}},{"gene_data":{"alias":["RAD30A","XP-V"],"biotype":"protein_coding","hgnc_id":"HGNC:9181","gene_name":"DNA polymerase eta","omim_gene":["603968"],"alias_name":null,"gene_symbol":"POLH","hgnc_symbol":"POLH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43543887-43586701","ensembl_id":"ENSG00000170734"}},"GRch38":{"90":{"location":"6:43576150-43615660","ensembl_id":"ENSG00000170734"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"POLH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23755135","23651273","24260050","27004399","25256075","27664908","24877075","24130121","25128761"],"evidence":["Expert Review Green"],"phenotypes":["Xeroderma pigmentosum, variant type, 278750"],"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":["RAD30A","XP-V"],"biotype":"protein_coding","hgnc_id":"HGNC:9181","gene_name":"DNA polymerase eta","omim_gene":["603968"],"alias_name":null,"gene_symbol":"POLH","hgnc_symbol":"POLH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43543887-43586701","ensembl_id":"ENSG00000170734"}},"GRch38":{"90":{"location":"6:43576150-43615660","ensembl_id":"ENSG00000170734"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"POLH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24877075","11773631","26884178","30511002"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Xeroderma pigmentosum, variant type, 278750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":243,"hash_id":"55af539322c1fc78a9ef5052","name":"Tumour predisposition - childhood onset","disease_group":"Tumour syndromes","disease_sub_group":"Childhood Tumours","status":"public","version":"1.36","version_created":"2019-08-12T08:35:21.843722Z","relevant_disorders":["Paediatric congenital malformation-dysmorphism-tumour syndrome","Paediatric congenital malformation-dysmorphism-tumour syndromes","Paediatric congenital malformation-dysmorphism-tumour sydromes","Paediatric congenital malformation-dysmorphism-tumour syndrome","R359"],"stats":{"number_of_genes":113,"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 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 Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["RAD30A","XP-V"],"biotype":"protein_coding","hgnc_id":"HGNC:9181","gene_name":"DNA polymerase eta","omim_gene":["603968"],"alias_name":null,"gene_symbol":"POLH","hgnc_symbol":"POLH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43543887-43586701","ensembl_id":"ENSG00000170734"}},"GRch38":{"90":{"location":"6:43576150-43615660","ensembl_id":"ENSG00000170734"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"POLH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24877075","11773631","26884178","30511002"],"evidence":["NHS GMS","Expert Review Green"],"phenotypes":["Xeroderma pigmentosum, variant type, 278750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":245,"hash_id":"595ce30f8f62036352471f39","name":"Adult solid tumours cancer susceptibility","disease_group":"Cancer Programme","disease_sub_group":"Pertinent cancer susceptibility gene panel","status":"public","version":"1.7","version_created":"2019-08-13T09:55:08.772098Z","relevant_disorders":["Carcinoma of unknown primary","Other","Adult solid tumours pertinent cancer susceptibility"],"stats":{"number_of_genes":103,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline 100K","slug":"cancer-germline-100k","description":"Cancer Germline 100K"},{"name":"GMS Cancer Germline Virtual","slug":"gms-cancer-germline-virtual","description":"This is a panel used for WGS germline analysis for the GMS."}]}},{"gene_data":{"alias":["RAD30A","XP-V"],"biotype":"protein_coding","hgnc_id":"HGNC:9181","gene_name":"DNA polymerase eta","omim_gene":["603968"],"alias_name":null,"gene_symbol":"POLH","hgnc_symbol":"POLH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:43543887-43586701","ensembl_id":"ENSG00000170734"}},"GRch38":{"90":{"location":"6:43576150-43615660","ensembl_id":"ENSG00000170734"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"POLH","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","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":["RAD30A","XP-V"],"biotype":"protein_coding","hgnc_id":"HGNC:9181","gene_name":"DNA polymerase eta","omim_gene":["603968"],"alias_name":null,"gene_symbol":"POLH","hgnc_symbol":"POLH","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"6:43543887-43586701","ensembl_id":"ENSG00000170734"}},"GRch38":{"90":{"location":"6:43576150-43615660","ensembl_id":"ENSG00000170734"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"POLH","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["UKGTN"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":34,"hash_id":"553f97abbb5a1616e5ed45f9","name":"Anophthalmia or microphthalmia","disease_group":"Ophthalmological disorders","disease_sub_group":"Ocular malformations","status":"public","version":"1.21","version_created":"2019-06-20T15:14:55.669056Z","relevant_disorders":["Anophthalmia or microphthamia","Anophthalmia/microphthamia","Anophthalmia/microphthalmia"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["RAD30A","XP-V"],"biotype":"protein_coding","hgnc_id":"HGNC:9181","gene_name":"DNA polymerase eta","omim_gene":["603968"],"alias_name":null,"gene_symbol":"POLH","hgnc_symbol":"POLH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43543887-43586701","ensembl_id":"ENSG00000170734"}},"GRch38":{"90":{"location":"6:43576150-43615660","ensembl_id":"ENSG00000170734"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"POLH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Red"],"phenotypes":["XERODERMA PIGMENTOSUM, VARIANT TYPE, 278750"],"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)"}]}}]}