Bilateral congenital or childhood onset cataracts
Gene: ADAMTS10EnsemblGeneIds (GRCh38): ENSG00000142303
EnsemblGeneIds (GRCh37): ENSG00000142303
OMIM: 608990, Gene2Phenotype
ADAMTS10 is in 7 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: WMS includes cataracts in a reasonable proportion of cases.Created: 17 Jun 2016, 3:41 p.m.
Sarah Waller (Manchester Centre for Genomic Medicine)
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
- Dagoneau et al (2004) Am J Hum Genet 75:801-806
- Li et al (2014) Mol Vis 20:1017
- Faivre et al (2003) Am J Med Genet A. 2003 Dec 1
- 123A(2):204-7
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Weill-Marchesani syndrome
- OMIM
- 608990
- Clinvar variants
- Variants in ADAMTS10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ADAMTS10 were set to Weill-Marchesani syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ADAMTS10 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()ADAMTS10 was added to Cataractspanel. Sources: UKGTN