Bilateral congenital or childhood onset cataracts
Gene: AGPS
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Publications
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 3. This disorder includes cataracts, which is apparent at birth or develop in early infancy (Genetics Home Reference).Created: 28 Apr 2016, 11:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 3
This gene has been classified as Green List (High Evidence).
Phenotypes for AGPS were set to Rhizomelic chondrodysplasia punctata type 3;rhizomelic chondrodysplasia punctata type 3 (RCDP3)
Publications for AGPS were set to de Vet et al (1998) J. Biol. Chem. 273: 10296-10301; Itzkovitz et al (2011) Hum Mutat 33:189-197
Mode of inheritance for AGPS was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
AGPS was added to Cataractspanel. Sources: UKGTN