Cataracts

Gene: RECQL4

Red List (low evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 18 panels

3 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

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)

I don't know

Indicated by Manchester to be of significance for this cataract panel. This gene is indicated in Rothmund-Thomson syndrome
Created: 4 May 2016, 2:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rothmund-Thomson syndrome

Ellen McDonagh (Genomics England Curator)

I don't know

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, 268400
  • RAPADILINO syndrome, 266280
  • Baller-Gerold syndrome, 218600
  • Rothmund-Thomson syndrome
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

History Filter Activity

2 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

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

2 Jun 2016, Gel status: 1

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

2 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RECQL4 was added to Cataractspanel. Sources: UKGTN