{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12692","gene_name":"vimentin","omim_gene":["193060"],"alias_name":null,"gene_symbol":"VIM","hgnc_symbol":"VIM","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"10:17270258-17279592","ensembl_id":"ENSG00000026025"}},"GRch38":{"90":{"location":"10:17228259-17237593","ensembl_id":"ENSG00000026025"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"VIM","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 26694549","PMID: 19126778 Muller et al (2009) Hum Mol Genet 18:1052-1057 - sequencing of the VIM gene in 90 individuals wuth congenital cataract, identified a E151K missense variant in one individual, which functional studies showed disrupted function","PMID: 26694549 Ma et al, 2016 - novel likely pathogenic frameshift variant identified in a patient with congenital cataracts p.Val6Cysfs∗26","PMID:24142690 - \"Here, we generated knock-in mice expressing vimentin that have had the serine sites phosphorylated during mitosis substituted by alanine residues. Homozygotic mice (VIM(SA/SA)) presented with microophthalmia and cataracts in the lens, whereas heterozygotic mice (VIM(WT/SA)) were indistinguishable from WT (VIM(WT/WT)) mice\". PMID: 18940912 - Vimentin-/- mice provided no evidence of an involvement of vimentin in the development of a specific disease. They therefore investigate the R113C point mutation in mice \"We demonstrate here for the first time that the expression of mutated vimentin induces a protein-stress response that contributes to disease pathology in mice, and hypothesise that vimentin mutations cause cataracts in humans.\""],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen"],"phenotypes":["Cataract 30, pulverulent, 116300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":230,"hash_id":"553f979fbb5a1616e5ed45f8","name":"Cataracts","disease_group":"Ophthalmological disorders","disease_sub_group":"Anterior segment abnormalities","status":"public","version":"2.0","version_created":"2019-10-02T14:52:22.701027Z","relevant_disorders":["R31"],"stats":{"number_of_genes":172,"number_of_strs":0,"number_of_regions":0},"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":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12692","gene_name":"vimentin","omim_gene":["193060"],"alias_name":null,"gene_symbol":"VIM","hgnc_symbol":"VIM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:17270258-17279592","ensembl_id":"ENSG00000026025"}},"GRch38":{"90":{"location":"10:17228259-17237593","ensembl_id":"ENSG00000026025"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"VIM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS"],"phenotypes":["Cataract 30, pulverulent, 116300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":509,"hash_id":null,"name":"Structural eye disease","disease_group":"","disease_sub_group":"","status":"public","version":"0.93","version_created":"2019-10-09T13:18:12.923145Z","relevant_disorders":["R36"],"stats":{"number_of_genes":456,"number_of_strs":0,"number_of_regions":2},"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)"}]}}]}