Bilateral congenital or childhood onset cataracts
Gene: ADAMTSL4

ADAMTSL4 (ADAMTS like 4)
EnsemblGeneIds (GRCh38): ENSG00000143382
EnsemblGeneIds (GRCh37): ENSG00000143382
OMIM: 610113, Gene2Phenotype
ADAMTSL4 is in 4 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Associated with isolated ectopia lentis rather than cataracts
Created: 6 Jun 2016, 9:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Neuhann (2015) Am J Hum genet 167A:2376-2381

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 May 2016, 8:10 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Demoted to red due to expert review - this gene is associated with isolated ectopia lentis rather than cataracts.
Created: 14 Jun 2016, 1:02 p.m.

Added to this panel from the Manchester congenital cataracts gene panel. Not associated with a disease in G2P. Is associated with Ectopia lentis et pupillae and Ectopia lentis, isolated, autosomal recessive in OMIM, which can involve cataracts.
Created: 29 Apr 2016, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 Apr 2016, 2:46 p.m.

Panel version: 0.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Ectopia lentis, isolated, autosomal recessive
Ectopia lentis et pupillae

OMIM

610113

Clinvar variants

Variants in ADAMTSL4

Penetrance

Complete

Publications

Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633
Neuhann (2015) Am J Hum genet 167A:2376-2381

Panels with this gene