{"count":1,"next":null,"previous":null,"results":[{"gene_data":{"alias":["KIAA1035","Nna1","CCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:17258","gene_name":"ATP/GTP binding protein 1","omim_gene":["606830"],"alias_name":["cytosolic carboxypeptidase 1","tubulinyl-Tyr carboxypeptidase","carboxypeptidase-tubulin","tyrosine carboxypeptidase","soluble carboxypeptidase"],"gene_symbol":"AGTPBP1","hgnc_symbol":"AGTPBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:88161455-88356944","ensembl_id":"ENSG00000135049"}},"GRch38":{"90":{"location":"9:85546539-85742029","ensembl_id":"ENSG00000135049"}}},"hgnc_date_symbol_changed":"2002-03-27"},"entity_type":"gene","entity_name":"AGTPBP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30420557"],"evidence":["NHS GMS","London North GLH"],"phenotypes":["Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276","Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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."}]}}]}