{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["D40","AF15Q14","CT29","KIAA1570","hKNL-1","hSpc105","PPP1R55","Spc7"],"biotype":"protein_coding","hgnc_id":"HGNC:24054","gene_name":"kinetochore scaffold 1","omim_gene":["609173"],"alias_name":["cancer/testis antigen 29","kinetochore null 1 homolog (C. elegans)","blinkin, bub-linking kinetochore protein","protein phosphatase 1, regulatory subunit 55"],"gene_symbol":"KNL1","hgnc_symbol":"KNL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40886218-40956540","ensembl_id":"ENSG00000137812"}},"GRch38":{"90":{"location":"15:40594020-40664342","ensembl_id":"ENSG00000137812"}}},"hgnc_date_symbol_changed":"2016-06-13"},"entity_type":"gene","entity_name":"KNL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["26626498","26621532","22983954"],"evidence":["NHS GMS","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","Other","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["MCPH","primary microcephaly","Primary Microcephaly, Recessive","Microcephaly 4, primary, autosomal recessive, 604321","Microcephaly 4, Primary, Autosomal Recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":"568f860222c1fc1c79ca1769","name":"Severe microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"DNA repair disorders","status":"public","version":"1.72","version_created":"2019-08-19T16:58:29.143286Z","relevant_disorders":["Primary Microcephaly - Microcephalic Dwarfism Spectrum","Severe microcephaly"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":5},"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":["D40","AF15Q14","CT29","KIAA1570","hKNL-1","hSpc105","PPP1R55","Spc7"],"biotype":"protein_coding","hgnc_id":"HGNC:24054","gene_name":"kinetochore scaffold 1","omim_gene":["609173"],"alias_name":["cancer/testis antigen 29","kinetochore null 1 homolog (C. elegans)","blinkin, bub-linking kinetochore protein","protein phosphatase 1, regulatory subunit 55"],"gene_symbol":"KNL1","hgnc_symbol":"KNL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40886218-40956540","ensembl_id":"ENSG00000137812"}},"GRch38":{"90":{"location":"15:40594020-40664342","ensembl_id":"ENSG00000137812"}}},"hgnc_date_symbol_changed":"2016-06-13"},"entity_type":"gene","entity_name":"KNL1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["22983954","26621532","26626498"],"evidence":["Expert Review Green","Expert Review Green","Expert Review Amber","BRIDGE study SPEED NEURO Tier1 Gene"],"phenotypes":["Microcephaly 4, primary, autosomal recessive 604321"],"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"}]}}]}