{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SDR11E2"],"biotype":"protein_coding","hgnc_id":"HGNC:5218","gene_name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2","omim_gene":["613890"],"alias_name":["short chain dehydrogenase/reductase family 11E, member 2"],"gene_symbol":"HSD3B2","hgnc_symbol":"HSD3B2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:119957554-119965658","ensembl_id":"ENSG00000203859"}},"GRch38":{"90":{"location":"1:119414931-119423035","ensembl_id":"ENSG00000203859"}}},"hgnc_date_symbol_changed":"1992-09-10"},"entity_type":"gene","entity_name":"HSD3B2","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Adrenal hyperplasia, Congenital, Due To 3-beta-Hydroxysteroid Dehydrogenase Deficiency type 2 with or without salt-loss","variabe effects on sex steroid synthesis","Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency 201810"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":145,"hash_id":"55bf785822c1fc0fe45530bf","name":"Congenital adrenal hypoplasia","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","status":"public","version":"2.0","version_created":"2019-07-31T14:08:52.172447Z","relevant_disorders":["R150"],"stats":{"number_of_genes":20,"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":["SDR11E2"],"biotype":"protein_coding","hgnc_id":"HGNC:5218","gene_name":"hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2","omim_gene":["613890"],"alias_name":["short chain dehydrogenase/reductase family 11E, member 2"],"gene_symbol":"HSD3B2","hgnc_symbol":"HSD3B2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:119957554-119965658","ensembl_id":"ENSG00000203859"}},"GRch38":{"90":{"location":"1:119414931-119423035","ensembl_id":"ENSG00000203859"}}},"hgnc_date_symbol_changed":"1992-09-10"},"entity_type":"gene","entity_name":"HSD3B2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Eligibility statement prior genetic testing","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen","UKGTN"],"phenotypes":["Genital Anomalies and Suspected Adrenal Problems Gene Panel (UKGTN)","Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810"],"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."}]}}]}