Sarcoma cancer susceptibility
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
2 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
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 osteosarcomasCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- Osteosarcoma
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Cutaneous photosensitivity with a likely genetic cause
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Gene and evidence provided by
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Sarcoma pertinent cancer susceptibility panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)RECQL4 was created by Ellen McDonagh