Bilateral congenital or childhood onset cataracts
Gene: ADAMTS10Comment on list classification: WMS includes cataracts in a reasonable proportion of cases.Created: 17 Jun 2016, 3:41 p.m.
Cataracts have been described in patients with AR WMS (Faivre et al (2003), however the phenotypes associated with ADAMTS10 mutations are ectopia lentis, microspherophakia and glaucoma.
Created: 6 Jun 2016, 9:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted to green due to expert review, and evidence provided by the review.Created: 25 May 2016, 9:31 a.m.
Is on the Manchester congenital cataracts gene panel. Associated with Weill-Marchesani syndrome 1, recessive in OMIM, which can include cataracts.Created: 28 Apr 2016, 11:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ADAMTS10 were set to Weill-Marchesani syndrome
Mode of inheritance for ADAMTS10 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for ADAMTS10 were set to Steinkeller et al (2015) Eur J Hum Genet 23:1186-1191; Dagoneau et al (2004) Am J Hum Genet 75:801-806; Li et al (2004) Mol Vis 20:1017; PMID: 25469541; 15368195
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
ADAMTS10 was added to Cataractspanel. Sources: UKGTN