This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
Tracy Lester (Genetics laboratory, Oxford UK)
Craniosynostosis syndrome gp of SD, Limb hypoplasia-reduction defects gp of SD - >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome 218600; RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- RAPILINO syndrome 266280
- Rothmund-Thomson syndrome 268400
- Baller-Gerold syndrome 218600
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Panels with this gene
-
- 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
- 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
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: RECQL4 was added gene: RECQL4 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to RAPILINO syndrome 266280; Rothmund-Thomson syndrome 268400; Baller-Gerold syndrome 218600