{"count":9,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25434005","26399558","27694831","27459931","27066548","2639955"],"evidence":["Expert Review Green","Expert"],"phenotypes":["?Waisman syndrome","early-onset parkinsonism and intellectual disability"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["25434005","26399558","27448726","27943471","27838047"],"evidence":["Expert Review Green","Emory Genetics Laboratory"],"phenotypes":["Waisman syndrome 311510"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":180,"hash_id":"56ba024322c1fc5025762b4d","name":"Structural basal ganglia disorders","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"Motor Disorders of the CNS","status":"public","version":"1.17","version_created":"2019-09-04T09:40:29.765078Z","relevant_disorders":[],"stats":{"number_of_genes":76,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27838047","27448726","27943471","25434005","26399558"],"evidence":["Expert Review Green"],"phenotypes":["Waisman syndrome 311510"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":475,"hash_id":null,"name":"Dystonia - childhood onset","disease_group":"","disease_sub_group":"","status":"public","version":"1.8","version_created":"2019-09-09T13:17:58.240159Z","relevant_disorders":[],"stats":{"number_of_genes":176,"number_of_strs":7,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27066548","27694831","26399558","27459931","28851564","2639955","25434005"],"evidence":["Expert Review Red","Wessex and West Midlands GLH","Yorkshire and North East GLH","NHS GMS","London North GLH"],"phenotypes":["early-onset parkinsonism and intellectual disability","?Waisman syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20159109","29152164"],"evidence":["Expert Review Red","PAGE DD-Gene2Phenotype"],"phenotypes":["MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11050621","20159109","25434005"],"evidence":["DD-Gene2Phenotype","Expert Review Green"],"phenotypes":["MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Mental retardation, X-linked 72, 300271","Mental Retardation, X-linked","MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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"}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27838047","27459931","27066548","26399558","2639955","27448726","27943471","25434005","27694831"],"evidence":["NHS GMS","London North GLH","Expert Review Green"],"phenotypes":["Waisman syndrome 311510","early-onset parkinsonism and intellectual disability"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","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)"}]}}]}