Bilateral congenital or childhood onset cataracts
Gene: VSX2

VSX2 (visual system homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000119614
EnsemblGeneIds (GRCh37): ENSG00000119614
OMIM: 142993, Gene2Phenotype
VSX2 is in 9 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, cataracts and iris abnormalities

Publications

Percin et al (2000) Nature Genet. 25: 397-401

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jun 2016, 8:28 a.m.

Panel version: 0.383

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Gene and phenotype added from the Manchester congenital cataracts gene panel. Mode of inheritance sourced from G2P. It is a confirmed DD gene for MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3, and MICROPHTHALMIA ISOLATED TYPE 2 (the former 2 of which include cataract as a phenotype).

Created: 29 Apr 2016, 3:45 p.m.

Created: 29 Apr 2016, 3:45 p.m.

Panel version: 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Microphthalmia/coloboma 3, OMIM:610092

OMIM

142993

Clinvar variants

Variants in VSX2

Penetrance

Complete

Publications

Percin et al (2000) Nature Genet. 25: 397-401

Panels with this gene

History Filter Activity

30 Sep 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: VSX2 were changed from Microphthalmia, cataracts and iris abnormalities to Microphthalmia/coloboma 3, OMIM:610092

14 Jun 2016, Gel status: 4