Bilateral congenital or childhood onset cataracts

Gene: LARGE1

added new-gene-name tag

Created: 9 Dec 2016, 3:30 p.m.

I don't know

Only 1 patient reported with a mutation in LARGE has had cataracts. Remaining patients had retinal detachment or other ocular disorders. However cataracts have been described in patients with dystroglycanopathies caused by mutations in other genes.

Created: 14 Jun 2016, 8:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
BIALLELIC, autosomal or pseudoautosomal

Publications

• van Reeuwijk et al (2007) Hum Genet 121:685-690
• Meilleur et al (2014) J Neuropathol Exp Neurol 73:425-441

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

Green List (high evidence)

Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.

Created: 27 Jun 2016, 4:27 p.m.

Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6 (includes cataract as a phenotype). Multiple reports in OMIM for different variants.

Created: 29 Apr 2016, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal