Cataracts

Gene: VSX2

Green List (high evidence)

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microphthalmia, cataracts and iris abnormalities
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

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for VSX2 were set to Percin et al (2000) Nature Genet. 25: 397-401

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

VSX2 was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VSX2 was added to Cataractspanel. Sources: Expert list