Bilateral congenital or childhood onset cataracts
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 panels
3 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Cataracts reportedly in 6% of RTS patients.Created: 2 Jun 2016, 1:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, 268400; RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600
Publications
- Wang et al (2001) Am J Med Genet 102:11-17
- Wang et al (2003) J. Nat. Cancer Inst. 95: 669-674
Variants in this GENE are reported as part of current diagnostic practice
Kirsty McCaffrey (Manchester Centre for Genomic Medicine)
Indicated by Manchester to be of significance for this cataract panel. This gene is indicated in Rothmund-Thomson syndromeCreated: 4 May 2016, 2:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Kept on the red list due to expert review.Created: 2 Jun 2016, 2:20 p.m.
Not on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for ROTHMUND-THOMSON SYNDROME, which has Juvenile zonular cataracts as a phenotype (though this is not included in the clinical synopsis in OMIM: http://omim.org/clinicalSynopsis/268400)Created: 29 Apr 2016, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- Complete
- Publications
-
- Wang et al (2001) Am J Med Genet 102:11-17
- Wang et al (2003) J. Nat. Cancer Inst. 95: 669-674
- Panels with this gene
-
- Skeletal dysplasia
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Cutaneous photosensitivity with a likely genetic cause
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Sarcoma cancer susceptibility
- Primary ovarian insufficiency
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, 268400; RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome to Rothmund-Thomson syndrome, type 2, OMIM:268400
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RECQL4 were set to Rothmund-Thomson syndrome, 268400; RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RECQL4 were set to Wang et al (2001) Am J Med Genet 102:11-17; Wang et al (2003) J. Nat. Cancer Inst. 95: 669-674
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
GEL ()RECQL4 was added to Cataractspanel. Sources: UKGTN