Cataracts

Gene: PRX

Red List (low evidence)

PRX (periaxin)
EnsemblGeneIds (GRCh38): ENSG00000105227
EnsemblGeneIds (GRCh37): ENSG00000105227
OMIM: 605725, Gene2Phenotype
PRX is in 5 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Congenital cataracts in Chinese families, authors suggest incomplete penetrance in family. Variant MAF 0.001. Funtional involvement suggested by Prx-/- mice had softer and more easily deformed lenses, revealing disruptions in fiber cell hexagonal packing, membrane skeleton and membrane stability (from PMID 27081207)
Created: 4 May 2017, 11:45 a.m.
Heterozygous variant, c.3673G > A (p.V1225M), in the periaxin gene (PRX) identified in three patients and two asymptomatic individuals of the family. The variant was absent in the other three unaffected family members and in 3290 ethnically matched in-house controls from BGI-Shenzhen.
Created: 4 May 2017, 11:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Congenital cataract

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Congenital cataract
OMIM
605725
Clinvar variants
Variants in PRX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 May 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PRX was added to Cataractspanel. Sources: Literature

4 May 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PRX was created by sleigh