1. Panels
  2. Anophthalmia or microphthalmia
  3. VSX2
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Anophthalmia or microphthalmia

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

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert review
Created: 10 May 2016, 11:37 a.m.
Created: 10 May 2016, 11:37 a.m.

Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microphthalmia, isolated 2, OMIM:610093
  • Microphthalmia/coloboma 3, OMIM:610092
OMIM
142993
Clinvar variants
Variants in VSX2
Penetrance
Complete
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 with coloboma 3 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

VSX2 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

VSX2 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

VSX2 was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services