Bilateral congenital or childhood onset cataracts
Gene: RECQL4
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
Variants in this GENE are reported as part of current diagnostic practice
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
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
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
This gene has been classified as Red List (Low Evidence).
Phenotypes for RECQL4 were set to Rothmund-Thomson syndrome, 268400; RAPADILINO syndrome, 266280; Baller-Gerold syndrome, 218600; Rothmund-Thomson syndrome
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
Mode of inheritance for RECQL4 was changed to BIALLELIC, autosomal or pseudoautosomal
RECQL4 was added to Cataractspanel. Sources: UKGTN