{"count":4,"next":null,"previous":null,"results":[{"gene_data":{"alias":["JP-3","CAGL237","HDL2","JP3"],"biotype":"protein_coding","hgnc_id":"HGNC:14203","gene_name":"junctophilin 3","omim_gene":["605268"],"alias_name":null,"gene_symbol":"JPH3","hgnc_symbol":"JPH3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:87635441-87731762","ensembl_id":"ENSG00000154118"}},"GRch38":{"90":{"location":"16:87601835-87698156","ensembl_id":"ENSG00000154118"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"gene","entity_name":"JPH3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert list"],"phenotypes":["Huntington disease-like 2\t606438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["nucleotide-repeat-expansion","currently-ngs-unreportable"],"panel":{"id":39,"hash_id":"58078e6e8f62030e233a8157","name":"Parkinson Disease and Complex Parkinsonism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.66","version_created":"2019-06-20T15:15:15.111993Z","relevant_disorders":["Complex Parkinsonism (includes pallido-pyramidal syndromes)","Early onset and familial Parkinson's Disease"],"stats":{"number_of_genes":57,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["JP-3","CAGL237","HDL2","JP3"],"biotype":"protein_coding","hgnc_id":"HGNC:14203","gene_name":"junctophilin 3","omim_gene":["605268"],"alias_name":null,"gene_symbol":"JPH3","hgnc_symbol":"JPH3","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:87635441-87731762","ensembl_id":"ENSG00000154118"}},"GRch38":{"90":{"location":"16:87601835-87698156","ensembl_id":"ENSG00000154118"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"gene","entity_name":"JPH3","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["Expert Review"],"phenotypes":["Huntington disease-like 2\t606438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["currently-ngs-unreportable","nucleotide-repeat-expansion"],"panel":{"id":265,"hash_id":"55b6173522c1fc05fc7a1855","name":"Early onset dementia (encompassing fronto-temporal dementia and prion disease)","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Neurodegenerative disorders","status":"public","version":"1.48","version_created":"2019-06-20T15:15:01.659131Z","relevant_disorders":[],"stats":{"number_of_genes":31,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":["JP-3","CAGL237","HDL2","JP3"],"biotype":"protein_coding","hgnc_id":"HGNC:14203","gene_name":"junctophilin 3","omim_gene":["605268"],"alias_name":null,"gene_symbol":"JPH3","hgnc_symbol":"JPH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:87635441-87731762","ensembl_id":"ENSG00000154118"}},"GRch38":{"90":{"location":"16:87601835-87698156","ensembl_id":"ENSG00000154118"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"gene","entity_name":"JPH3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Yorkshire and North East GLH","Expert Review Red"],"phenotypes":["Huntington disease-like 2 606438"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["nucleotide-repeat-expansion","currently-ngs-unreportable"],"panel":{"id":474,"hash_id":null,"name":"Neurodegenerative disorders - adult onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.106","version_created":"2019-09-20T16:19:10.101841Z","relevant_disorders":["R58"],"stats":{"number_of_genes":395,"number_of_strs":18,"number_of_regions":4},"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":["JP-3","CAGL237","HDL2","JP3"],"biotype":"protein_coding","hgnc_id":"HGNC:14203","gene_name":"junctophilin 3","omim_gene":["605268"],"alias_name":null,"gene_symbol":"JPH3","hgnc_symbol":"JPH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:87635441-87731762","ensembl_id":"ENSG00000154118"}},"GRch38":{"90":{"location":"16:87601835-87698156","ensembl_id":"ENSG00000154118"}}},"hgnc_date_symbol_changed":"2000-12-08"},"entity_type":"gene","entity_name":"JPH3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":[],"evidence":["NHS GMS","South West GLH","Expert Review Red"],"phenotypes":["Huntington disease-like 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":540,"hash_id":null,"name":"Adult onset movement disorder","disease_group":"","disease_sub_group":"","status":"public","version":"0.125","version_created":"2019-09-29T14:25:05.513850Z","relevant_disorders":["R56"],"stats":{"number_of_genes":202,"number_of_strs":11,"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)"}]}}]}
