COVID-19 researchGene: RECQL4
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in 3 unrelated cases in which immunodeficiecy was a feature (PMID 16630167; 21143835; 26064716). In addition RECQL4 variants have been implicated in Acrodermatitis Enteropathica caused by SLC39A4 (p.Gly512Trp)(PMID 30174688)
Created: 16 Apr 2020, 1:25 p.m. | Last Modified: 16 Apr 2020, 1:25 p.m.
Panel Version: 0.108
Strong evidence that biallelic loss of function in this gene causes Rothmund-Thomson syndrome but poor evidence that combined immunodeficiency is part of this phenotype (single case report)
Created: 11 Jun 2018, 1:02 p.m.
Comment on phenotypes: added phenotype from OMIM
Created: 13 Jun 2018, 9:51 a.m.
Comment on publications: Added publications suggested from external expert review to support Rothmund-Thomson syndrome
Created: 13 Jun 2018, 9:49 a.m.
External expert review notes Amber status, however the evidence that biallelic loss of function in this gene causes Rothmund-Thomson syndrome it is noted that there is poor evidence for immunodeficiency part of Rothmund-Thomson syndrome phenotype , so I have decided to keep this gene Red on this panel.
Created: 13 Jun 2018, 9:48 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: RECQL4 (Poikilodermia congenita), PanelApp HGNC gene symbol check: RECQL4, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency
Created: 17 Apr 2018, 12:29 p.m.
Gene: recql4 has been classified as Green List (High Evidence).
Publications for gene: RECQL4 were set to 16630167
gene: RECQL4 was added gene: RECQL4 was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117 Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 16630167 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, 268400; Combined immunodeficiency