Childhood solid tumours cancer susceptibility
Gene: RECQL4
RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund Thomson Syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Cutaneous photosensitivity with a likely genetic cause
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
26 Mar 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Rothmund Thomson Syndrome to Rothmund-Thomson syndrome, type 2, OMIM:268400
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
5 Jul 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Childhood solid tumourspanel. Source: Expert Review Green
5 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Childhood solid tumourspanel. Sources: Expert list
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RECQL4 was created by ellenmcdonagh