Sarcoma cancer susceptibility

Gene: RECQL4

Green List (high evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels

2 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

In the paper author identified Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma patients. Five of 249 (2.0%) osteosarcoma patients carried LoF Heterozygous variant. These RECQL4 variants were significantly overrepresented in children with OS, the cancer most frequently observed in patients with RTS, as compared to 134,187 noncancer controls in the Genome Aggregation Database (gnomAD v2.1; P = 0.00087, odds ratio [OR] = 7.1, 95% CI, 2.9–17).
OR=7 - Sufficient evidence also for monoallelic for osteosarcomas
Created: 24 Mar 2023, 7:24 a.m. | Last Modified: 24 Mar 2023, 7:24 a.m.
Panel Version: 1.21

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Osteosarcoma

Publications

Ellen McDonagh (Genomics England Curator)

This gene was reviewed by Lara Hawkes (Cancer Clinical Team, Genomics England) and agrees this should be included on this panel.
Created: 20 Aug 2018, 1:29 p.m.
Gene and evidence provided by Adrienne Flanagan, UCL.
Created: 14 May 2018, 3:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma

Publications

History Filter Activity

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Gene and evidence provided by

14 May 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RECQL4 was added to Sarcoma pertinent cancer susceptibility panel. Sources: Expert list

14 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RECQL4 was created by Ellen McDonagh