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  3. VSX2
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Structural eye disease

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: This gene is associated with Microphthalmia, isolated 2, OMIM:610093 and Microphthalmia/coloboma 3, OMIM:610092 (accessed on 30-09-2025)
Created: 30 Sep 2025, 1:32 p.m. | Last Modified: 30 Sep 2025, 1:32 p.m.
Panel Version: 4.29
Created: 30 Sep 2025, 1:32 p.m.
Last Modified: 30 Sep 2025, 1:32 p.m.
Panel version: 4.29

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Many families reported
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia with coloboma 3, 610092

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Many families reported
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia with coloboma 3, 610092

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microphthalmia, isolated 2, OMIM:610093
  • Microphthalmia/coloboma 3, OMIM:610092
OMIM
142993
Clinvar variants
Variants in VSX2
Penetrance
None
Publications
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, 610092 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to VSX2. Added phenotypes Microphthalmia with coloboma 3, 610092 for gene: VSX2 Publications for gene VSX2 were changed from 10932181, 24859618 to 20414678; 10932181

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: VSX2 was added gene: VSX2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VSX2 were set to 10932181, 24859618 Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092