{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:33227","gene_name":"transmembrane protein 114","omim_gene":["611579"],"alias_name":null,"gene_symbol":"TMEM114","hgnc_symbol":"TMEM114","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"16:8619502-8622304","ensembl_id":"ENSG00000232258"}},"GRch38":{"90":{"location":"16:8537605-8590193","ensembl_id":"ENSG00000232258"}}},"hgnc_date_symbol_changed":"2007-08-01"},"entity_type":"gene","entity_name":"TMEM114","confidence_level":"1","penetrance":"Complete","mode_of_pathogenicity":"","publications":["PMID: 17492639 Jamieson et al (2007) Hum Mutat 28:968-977 - original report of a balanced translocation which involved the TMEM114 gene associated with congenital/juvenile cataracts in a family pedigree. They also report identifying heterozygous missense variants in several other cases, however these were found in healthy sibling and mother: \"The I35T and F106L variants were in conserved amino acids in the first predicted protein loop outside the membrane (Fig. 3A and B). These mutations were absent in 200 normal control chromosomes as well as 129 other congenital cataract patients. Nevertheless, these mutations were also detected in a heterozygous state in the DNA from the patients’ apparently healthy sibling and mother, respectively. One sequence variant, c.440C4T, p.A147V, was a polymorphism, which was found three times in the cohort and was not present in all affected individuals in a familial case.\"","PMID: 24357539 Gai et al, (2014) - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance, or other factors are causal in the previous published report that associated variants in this gene with cataract."],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Cataract and microphthalmia"],"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:33227","gene_name":"transmembrane protein 114","omim_gene":["611579"],"alias_name":null,"gene_symbol":"TMEM114","hgnc_symbol":"TMEM114","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8619502-8622304","ensembl_id":"ENSG00000232258"}},"GRch38":{"90":{"location":"16:8537605-8590193","ensembl_id":"ENSG00000232258"}}},"hgnc_date_symbol_changed":"2007-08-01"},"entity_type":"gene","entity_name":"TMEM114","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17492639"],"evidence":["DD-Gene2Phenotype","Expert Review Red"],"phenotypes":["CONGENITAL AND JUVENILE CATARACT 611579"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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"}]}}]}