Bilateral congenital or childhood onset cataracts
Gene: GNPAT
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhizomelic chondrodysplasia punctata type 2 (RCDP2)
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel, and is a confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2 (which includes cataract). Multiple different variants reported in OMIM with an association with Rhizomelic chondrodysplasia punctata, type 2.Created: 29 Apr 2016, 12:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2
This gene has been classified as Green List (High Evidence).
Phenotypes for GNPAT were set to Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2;rhizomelic chondrodysplasia punctata type 2 (RCDP2)
Phenotypes for GNPAT were set to Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2
Mode of inheritance for GNPAT was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
GNPAT was added to Cataractspanel. Sources: UKGTN