{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["RDRTA2","VPP2","RTADR","a4","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:866","gene_name":"ATPase H+ transporting V0 subunit a4","omim_gene":["605239"],"alias_name":null,"gene_symbol":"ATP6V0A4","hgnc_symbol":"ATP6V0A4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:138391040-138484305","ensembl_id":"ENSG00000105929"}},"GRch38":{"90":{"location":"7:138706295-138799560","ensembl_id":"ENSG00000105929"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Eligibility statement prior genetic testing","Expert"],"phenotypes":["distal renal tubular acidosis","Compensated or uncomensated dRTA and/or recurrent stone formation, usually with hypocitraturia. +/- deafness","Renal tubular acidosis, distal, autosomal recessive"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":"553f94d5bb5a1616e5ed45a5","name":"Nephrocalcinosis or nephrolithiasis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.18","version_created":"2019-09-17T20:55:27.132282Z","relevant_disorders":["Renal tract calcification (or Nephrolithiasis or nephrocalcinosis)","Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)","R256"],"stats":{"number_of_genes":42,"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":["RDRTA2","VPP2","RTADR","a4","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:866","gene_name":"ATPase H+ transporting V0 subunit a4","omim_gene":["605239"],"alias_name":null,"gene_symbol":"ATP6V0A4","hgnc_symbol":"ATP6V0A4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:138391040-138484305","ensembl_id":"ENSG00000105929"}},"GRch38":{"90":{"location":"7:138706295-138799560","ensembl_id":"ENSG00000105929"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A4","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)","Renal tubular acidosis, distal, autosomal recessive, 602722"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":9,"hash_id":"569380ac22c1fc251660faf8","name":"Disorders of sex development","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","status":"public","version":"2.1","version_created":"2019-10-01T10:16:03.440399Z","relevant_disorders":["R146"],"stats":{"number_of_genes":54,"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 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":["RDRTA2","VPP2","RTADR","a4","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:866","gene_name":"ATPase H+ transporting V0 subunit a4","omim_gene":["605239"],"alias_name":null,"gene_symbol":"ATP6V0A4","hgnc_symbol":"ATP6V0A4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:138391040-138484305","ensembl_id":"ENSG00000105929"}},"GRch38":{"90":{"location":"7:138706295-138799560","ensembl_id":"ENSG00000105929"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A4","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["UKGTN"],"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":["RDRTA2","VPP2","RTADR","a4","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:866","gene_name":"ATPase H+ transporting V0 subunit a4","omim_gene":["605239"],"alias_name":null,"gene_symbol":"ATP6V0A4","hgnc_symbol":"ATP6V0A4","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"7:138391040-138484305","ensembl_id":"ENSG00000105929"}},"GRch38":{"90":{"location":"7:138706295-138799560","ensembl_id":"ENSG00000105929"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A4","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Eligibility statement prior genetic testing","Expert","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","UKGTN"],"phenotypes":["Distal Renal Tubular Acidosis, Recessive","Renal tubular acidosis, distal, autosomal recessive, 602722","Distal renal tubular acidosis","Autosomal recessive distal renal tubular acidosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":292,"hash_id":"553f94d5bb5a1616e5ed45a4","name":"Renal tubulopathies","disease_group":"Renal and urinary tract disorders","disease_sub_group":"Disorders of function","status":"public","version":"1.193","version_created":"2019-10-09T09:34:39.432250Z","relevant_disorders":["Renal tubular acidosis","R198"],"stats":{"number_of_genes":55,"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)"}]}}]}
