{"count":5,"next":null,"previous":null,"results":[{"gene_data":{"alias":["P5CR2"],"biotype":"protein_coding","hgnc_id":"HGNC:30262","gene_name":"pyrroline-5-carboxylate reductase 2","omim_gene":["616406"],"alias_name":null,"gene_symbol":"PYCR2","hgnc_symbol":"PYCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226107578-226111978","ensembl_id":"ENSG00000143811"}},"GRch38":{"90":{"location":"1:225919877-225924340","ensembl_id":"ENSG00000143811"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"PYCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["Leukodystrophy, hypomyelinating, 10  616420"],"mode_of_inheritance":"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":["P5CR2"],"biotype":"protein_coding","hgnc_id":"HGNC:30262","gene_name":"pyrroline-5-carboxylate reductase 2","omim_gene":["616406"],"alias_name":null,"gene_symbol":"PYCR2","hgnc_symbol":"PYCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226107578-226111978","ensembl_id":"ENSG00000143811"}},"GRch38":{"90":{"location":"1:225919877-225924340","ensembl_id":"ENSG00000143811"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"PYCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Other"],"phenotypes":["Leukodystrophy, hypomyelinating, 10  616420"],"mode_of_inheritance":"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":["P5CR2"],"biotype":"protein_coding","hgnc_id":"HGNC:30262","gene_name":"pyrroline-5-carboxylate reductase 2","omim_gene":["616406"],"alias_name":null,"gene_symbol":"PYCR2","hgnc_symbol":"PYCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226107578-226111978","ensembl_id":"ENSG00000143811"}},"GRch38":{"90":{"location":"1:225919877-225924340","ensembl_id":"ENSG00000143811"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"PYCR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","PAGE DD-Gene2Phenotype"],"phenotypes":["POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME"],"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":["P5CR2"],"biotype":"protein_coding","hgnc_id":"HGNC:30262","gene_name":"pyrroline-5-carboxylate reductase 2","omim_gene":["616406"],"alias_name":null,"gene_symbol":"PYCR2","hgnc_symbol":"PYCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:226107578-226111978","ensembl_id":"ENSG00000143811"}},"GRch38":{"90":{"location":"1:225919877-225924340","ensembl_id":"ENSG00000143811"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"PYCR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["25865492"],"evidence":["DD-Gene2Phenotype","Expert Review Amber"],"phenotypes":["POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME"],"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":["P5CR2"],"biotype":"protein_coding","hgnc_id":"HGNC:30262","gene_name":"pyrroline-5-carboxylate reductase 2","omim_gene":["616406"],"alias_name":null,"gene_symbol":"PYCR2","hgnc_symbol":"PYCR2","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"1:226107578-226111978","ensembl_id":"ENSG00000143811"}},"GRch38":{"90":{"location":"1:225919877-225924340","ensembl_id":"ENSG00000143811"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"PYCR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25865492","27130255","27860360"],"evidence":["Expert Review Green","Expert Review Green","Expert Review Red"],"phenotypes":["Leukodystrophy, hypomyelinating, 10, 616420","intellectual disability","Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume"],"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"}]}}]}