Bilateral congenital or childhood onset cataracts
Gene: GNPAT

GNPAT (glyceronephosphate O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116906
EnsemblGeneIds (GRCh37): ENSG00000116906
OMIM: 602744, Gene2Phenotype
GNPAT is in 10 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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

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

Panel version: 0.383

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Created: 29 Apr 2016, 12:02 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2
rhizomelic chondrodysplasia punctata type 2 (RCDP2)

OMIM

602744

Clinvar variants

Variants in GNPAT

Penetrance

Complete

Panels with this gene