This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Rothmund-Thompson SyndromeOsteosarcoma
- Basal cell carcinoma
- Squamous cell carcinoma
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Cutaneous photosensitivity with a likely genetic cause
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Sarcoma cancer susceptibility
- Intellectual disability
- Primary ovarian insufficiency
- COVID-19 research
- Limb disorders
- Monogenic short stature
- Childhood solid tumours
- Sarcoma susceptibility
- Bilateral congenital or childhood onset cataracts
- Pigmentary skin disorders
- Skeletal dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RECQL4 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)