{"count":10,"next":null,"previous":null,"results":[{"gene_data":{"alias":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Rickets, vitamin D-resistant, type IIA (277440)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":482,"hash_id":null,"name":"Hypophosphataemia or rickets","disease_group":"","disease_sub_group":"","status":"public","version":"2.1","version_created":"2019-07-31T12:01:20.025463Z","relevant_disorders":["R154"],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London North GLH","Expert Review Red","NHS GMS"],"phenotypes":["Susceptibility to skin cancer"],"mode_of_inheritance":"","tags":[],"panel":{"id":559,"hash_id":null,"name":"Pigmentary skin disorders","disease_group":"","disease_sub_group":"","status":"public","version":"0.15","version_created":"2019-09-17T17:51:23.014209Z","relevant_disorders":[],"stats":{"number_of_genes":102,"number_of_strs":0,"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)"},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","London North GLH","NHS GMS"],"phenotypes":["Susceptibility to skin cancer"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":558,"hash_id":null,"name":"Multiple monogenic benign skin tumours","disease_group":"","disease_sub_group":"","status":"public","version":"0.10","version_created":"2019-06-20T15:15:13.746402Z","relevant_disorders":[],"stats":{"number_of_genes":43,"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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":309,"hash_id":"5693952f22c1fc251660fb1e","name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"1.203","version_created":"2019-10-03T09:38:50.417968Z","relevant_disorders":["Unexplained skeletal dysplasia","Skeletal dysplasia"],"stats":{"number_of_genes":546,"number_of_strs":1,"number_of_regions":6},"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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["RICKETS VITAMIN D-DEPENDENT TYPE 2A"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":478,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","status":"public","version":"0.344","version_created":"2019-09-17T09:38:10.568007Z","relevant_disorders":["R21"],"stats":{"number_of_genes":1721,"number_of_strs":0,"number_of_regions":0},"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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":196,"hash_id":"55896ed2bb5a1671a7fef4f9","name":"Osteogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","status":"public","version":"2.0","version_created":"2019-09-04T11:35:54.595856Z","relevant_disorders":["Osteogenesis Imperfecta","R102"],"stats":{"number_of_genes":184,"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)"},{"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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2849209","8675579","3024987","8961271","9360557","2557627","8392085","2177843","17970811","11564167","2558018"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":484,"hash_id":null,"name":"DDG2P","disease_group":"","disease_sub_group":"","status":"public","version":"1.137","version_created":"2019-10-08T15:56:59.220133Z","relevant_disorders":[],"stats":{"number_of_genes":1893,"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":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Gene2Phenotype confirmed gene with ID HPO"],"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"}]}}]}
