{"count":6,"next":null,"previous":null,"results":[{"gene_data":{"alias":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["Neuropathy,congenital hypomyelinating,605253","Congenital Hypomyelination"],"mode_of_inheritance":"BOTH monoallelic and 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":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Congenital Hypomyelination","Neuropathy,congenital hypomyelinating,605253"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":"568f920822c1fc1c79ca177a","name":"Inherited white matter disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"White matter disorders","status":"public","version":"1.71","version_created":"2019-08-08T12:01:29.978699Z","relevant_disorders":["Leukodystrophy - adult onset"],"stats":{"number_of_genes":166,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["8816708","26310628"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Neuropathy, congenital hypomyelinating 605253"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":258,"hash_id":"55b75d5b22c1fc05fd2345c9","name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neuromuscular disorders","status":"public","version":"2.45","version_created":"2019-10-07T10:19:07.721001Z","relevant_disorders":["Arthrogrythsis"],"stats":{"number_of_genes":246,"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":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"}]}},{"gene_data":{"alias":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","PAGE Additional Gene List"],"phenotypes":["Charcot-Marie-Tooth disease, type 1B 118200","Charcot-Marie-Tooth disease, type 2I 607677","Roussy-Levy syndrome  180800","Dejerine-Sottas disease  145900","Charcot-Marie-Tooth disease, type 2J 607736","Charcot-Marie-Tooth disease, dominant intermediate D 607791","Neuropathy, congenital hypomyelinating 605253"],"mode_of_inheritance":"BOTH monoallelic and 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":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["South West GLH","NHS GMS","London North GLH","Expert Review Green","Eligibility statement prior genetic testing","Emory Genetics Laboratory","Radboud University Medical Center, Nijmegen","UKGTN","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Charcot Marie Tooth disease, type 2I, 607677","Charcot Marie Tooth disease, type 1B, 118200","Charcot Marie Tooth disease, type 2J, 607736","Roussy Levy syndrome, 180800","Charcot Marie Tooth disease, type 2J, 607736","Roussy Levy syndrome, 180800","Charcot Marie Tooth disease, type 2I, 607677","Charcot Marie Tooth disease, dominant intermediate D, 607791","Dejerine Sottas disease, 145900","Dejerine Sottas disease, 145900","Charcot Marie Tooth disease, dominant intermediate D, 607791","Neuropathy, congenital hypomyelinating, 605253","Neuropathy, congenital hypomyelinating, 605253"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":85,"hash_id":"55ad205422c1fc7041340234","name":"Hereditary neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor and Sensory Disorders of the PNS","status":"public","version":"1.333","version_created":"2019-07-09T13:10:50.031506Z","relevant_disorders":["Charcot-Marie-Tooth disease"],"stats":{"number_of_genes":276,"number_of_strs":11,"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."}]}},{"gene_data":{"alias":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Red","Expert Review Red","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Associated with Charcot-Marie-Tooth disease, dominant intermediate D ( 607791)","Charcot-Marie-Tooth disease, type 1B"],"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"}]}}]}
