Bilateral congenital or childhood onset cataracts
Gene: LARGE1added new-gene-name tagCreated: 9 Dec 2016, 3:30 p.m.
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
Variants in this GENE are reported as part of current diagnostic practice
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
LARGE was changed to LARGE1
new-gene-name was removed from LARGE. Panel: Cataracts
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for LARGE were set to van Reeuwijk et al (2007) Hum Genet 121:685-690; Meilleur et al (2014) J Neuropathol Exp Neurol 73:425-441
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for LARGE were set to Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6
Mode of inheritance for LARGE was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
LARGE was added to Cataractspanel. Sources: UKGTN