This Panel is marked as Internal
DNA Repair Genes pertinent 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
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Details
- Sources
-
- Human DNA Repair Genes Database
- Phenotypes
-
- Class: Genes defective in diseases associated with sensitivity to DNA damaging agents
- Activity: Rothmund-Thompson syndrome
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cutaneous photosensitivity with a likely genetic cause
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- COVID-19 research
- Limb disorders
- Skeletal dysplasia
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Pigmentary skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
7 Sep 2018, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: changed gene symbol to approve
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RECQL4 was created by ellenmcdonagh
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to DNA Repair Genespanel. Sources: Human DNA Repair Genes Database