{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["CRS2","FPP","HOX8","MSH","PFM"],"biotype":"protein_coding","hgnc_id":"HGNC:7392","gene_name":"msh homeobox 2","omim_gene":["123101"],"alias_name":["craniosynostosis, type 2"],"gene_symbol":"MSX2","hgnc_symbol":"MSX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:174151536-174157896","ensembl_id":"ENSG00000120149"}},"GRch38":{"90":{"location":"5:174724533-174730893","ensembl_id":"ENSG00000120149"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Expert list","Radboud University Medical Center, Nijmegen",""],"phenotypes":["Craniosynostosis, type 2 604757","Parietal foramina with cleidocranial dysplasia 168550","Parietal foramina 1 168500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["CRS2","FPP","HOX8","MSH","PFM"],"biotype":"protein_coding","hgnc_id":"HGNC:7392","gene_name":"msh homeobox 2","omim_gene":["123101"],"alias_name":["craniosynostosis, type 2"],"gene_symbol":"MSX2","hgnc_symbol":"MSX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:174151536-174157896","ensembl_id":"ENSG00000120149"}},"GRch38":{"90":{"location":"5:174724533-174730893","ensembl_id":"ENSG00000120149"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["PAGE DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM","CRANIOSYNOSTOSIS, TYPE 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["CRS2","FPP","HOX8","MSH","PFM"],"biotype":"protein_coding","hgnc_id":"HGNC:7392","gene_name":"msh homeobox 2","omim_gene":["123101"],"alias_name":["craniosynostosis, type 2"],"gene_symbol":"MSX2","hgnc_symbol":"MSX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:174151536-174157896","ensembl_id":"ENSG00000120149"}},"GRch38":{"90":{"location":"5:174724533-174730893","ensembl_id":"ENSG00000120149"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["8106171","23949913","23918290"],"evidence":["NHS GMS","Expert Review Green","Expert list","Illumina TruGenome Clinical Sequencing Services","Radboud University Medical Center, Nijmegen"],"phenotypes":["Craniosynostosis, type 2, 604757","Parietal foramina 1, 168500","Parietal foramina with cleidocranial dysplasia, 168550","Craniosynostosis","MSX2-related craniosynostosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":168,"hash_id":"55b605f722c1fc05fd2345af","name":"Craniosynostosis","disease_group":"Skeletal disorders","disease_sub_group":"Craniosynostosis syndromes","status":"public","version":"2.0","version_created":"2019-09-17T13:00:09.542482Z","relevant_disorders":["Craniosynostosis syndromes","Craniosynostosis syndromes phenotypes","Rare syndromic craniosynostosis or isolated multisuture synostosis","R100"],"stats":{"number_of_genes":114,"number_of_strs":0,"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."},{"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":["CRS2","FPP","HOX8","MSH","PFM"],"biotype":"protein_coding","hgnc_id":"HGNC:7392","gene_name":"msh homeobox 2","omim_gene":["123101"],"alias_name":["craniosynostosis, type 2"],"gene_symbol":"MSX2","hgnc_symbol":"MSX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:174151536-174157896","ensembl_id":"ENSG00000120149"}},"GRch38":{"90":{"location":"5:174724533-174730893","ensembl_id":"ENSG00000120149"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14571277"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550","CRANIOSYNOSTOSIS, TYPE 2 604757"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["CRS2","FPP","HOX8","MSH","PFM"],"biotype":"protein_coding","hgnc_id":"HGNC:7392","gene_name":"msh homeobox 2","omim_gene":["123101"],"alias_name":["craniosynostosis, type 2"],"gene_symbol":"MSX2","hgnc_symbol":"MSX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:174151536-174157896","ensembl_id":"ENSG00000120149"}},"GRch38":{"90":{"location":"5:174724533-174730893","ensembl_id":"ENSG00000120149"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX2","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":["CRS2","FPP","HOX8","MSH","PFM"],"biotype":"protein_coding","hgnc_id":"HGNC:7392","gene_name":"msh homeobox 2","omim_gene":["123101"],"alias_name":["craniosynostosis, type 2"],"gene_symbol":"MSX2","hgnc_symbol":"MSX2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"5:174151536-174157896","ensembl_id":"ENSG00000120149"}},"GRch38":{"90":{"location":"5:174724533-174730893","ensembl_id":"ENSG00000120149"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":" ","publications":[],"evidence":["Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Craniosynostosis, type 2, 604757","Parietal foramina 1, 168500","Parietal foramina with cleidocranial dysplasia, 168550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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"}]}}]}
