VACTERL-like phenotypes
Gene: RECQL4
RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 23 panels
1 review
Muriel Holder (Clinical Genetics, Guy's Hospital)
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma susceptibility
- Severe microcephaly
- Intellectual disability
- Cutaneous photosensitivity with a likely genetic cause
- Childhood solid tumours
- Ectodermal dysplasia
- DDG2P
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Limb disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Skeletal dysplasia
- Sarcoma cancer susceptibility
- Bilateral congenital or childhood onset cataracts
- Primary ovarian insufficiency
- COVID-19 research
- Fetal anomalies
- Pigmentary skin disorders
- Sarcoma of possible germline origin
History Filter Activity
28 Apr 2015, Gel status: 1
Added New Source
GEL ()RECQL4 was added to VACTERL-like phenotypepanel. Sources: Emory Genetics Laboratory