Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Cardinal features are CSS and radal aplasia, phenotypic overlap with Sethre-Chotzen ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome - 218600
Publications
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: RECQL4; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Andrew Wilkie (University of Oxford)
A minority of cases of RECQL4 mutations are associated with craniosynostosis and radial ray defects. Rothmund-Thomson and RAPADALINO syndromes are more common presentations, with poikiloderma being the most prominent featureCreated: 15 Sep 2015, 7:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Baller-Gerold syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- 218600
- Baller-Gerold syndrome 218600
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Cutaneous photosensitivity with a likely genetic cause
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- COVID-19 research
- Intellectual disability
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Skeletal dysplasia
- Sarcoma susceptibility
- Monogenic short stature
- Limb disorders
- DDG2P
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Baller-Gerold syndrome 218600 for gene: RECQL4
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for RECQL4 were set to 218600
Set publications
Richard Scott (Genomics England Curator)Publications for RECQL4 were set to 24635570
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)RECQL4 was added to Craniosynostosis syndromespanel. Sources: Expert list