Cataracts

Gene: ADAMTS10

Green List (high evidence)

ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif 10)
EnsemblGeneIds (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)

I don't know

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)

I don't know

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
  • 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
Panels with this gene

History Filter Activity

17 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ADAMTS10 were set to Weill-Marchesani syndrome

25 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ADAMTS10 was changed to BIALLELIC, autosomal or pseudoautosomal

25 May 2016, Gel status: 4

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

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ADAMTS10 was added to Cataractspanel. Sources: UKGTN