COVID-19 research

Gene: 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

I don't know

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.

Publications

• 16630167

Red List (low evidence)

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.