Bilateral congenital or childhood onset cataracts

Gene: POMT2

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
muscular dystrophy-dystroglycanopathy (MDDG)

Publications

• Godfrey et al (2007) Brain 130:2725-35
• Chiara Manzini et al (2008) Hum Mutat 29:E231-E241

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, 4:26 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 A2 (includes cataract as a phenotype).

Created: 29 Apr 2016, 1:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal