Bilateral congenital or childhood onset cataracts
Gene: POMT1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscular dystrophy-dystroglycanopathy (MDDG)
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, 4:26 p.m.
Is on the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 (which include cataract as a phenotype).
Created: 29 Apr 2016, 1:41 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).
Phenotypes for POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1;muscular dystrophy-dystroglycanopathy (MDDG)
Publications for POMT1 were set to Chiara Manzini et al (2008) Hum Mutat 29:E231-E241
Phenotypes for POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A1
Mode of inheritance for POMT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
POMT1 was added to Cataractspanel. Sources: UKGTN