Bilateral congenital or childhood onset cataracts
Gene: ADAMTSL4
Associated with isolated ectopia lentis rather than cataractsCreated: 6 Jun 2016, 9:12 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: 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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ADAMTSL4 were set to Ectopia lentis, isolated, autosomal recessive; Ectopia lentis et pupillae;
Publications for ADAMTSL4 were set to Aragon-Martin et al (2010) Hum Mutat 31:E1622-E1633; Neuhann (2015) Am J Hum genet 167A:2376-2381
This gene has been classified as Amber List (Moderate Evidence).
ADAMTSL4 was added to Cataractspanel. Sources: Expert list
ADAMTSL4 was created by ellenmcdonagh