This Panel is marked as Internal
Non-Fanconi anaemia
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
Mark Greenslade (Bristol Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Limb Malformation
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- 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
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RECQL4 was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory