Sarcoma of possible germline origin
Gene: RECQL4
RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 21 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
RECQL4 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:28 p.m. | Last Modified: 26 Jan 2026, 6:28 p.m.
Panel Version: 0.4
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #268400) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 2:24 p.m. | Last Modified: 30 Dec 2025, 2:24 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, type 2, OMIM:268400; Rothmund-Thomson syndrome type 2, MONDO:0016369
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- Rothmund-Thomson syndrome type 2, MONDO:0016369
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Panels with this gene
-
- Sarcoma of possible germline origin
- Limb disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cutaneous photosensitivity with a likely genetic cause
- Bilateral congenital or childhood onset cataracts
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- DDG2P
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Primary ovarian insufficiency
- COVID-19 research
- Pigmentary skin disorders
- Monogenic short stature
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: RECQL4 was added gene: RECQL4 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, OMIM:268400; Rothmund-Thomson syndrome type 2, MONDO:0016369