Glaucoma (developmental)
Gene: VAX1

VAX1 (ventral anterior homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000148704
EnsemblGeneIds (GRCh37): ENSG00000148704
OMIM: 604294, Gene2Phenotype
VAX1 is in 5 panels

2 reviews

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

I don't know

Bertuzzi: mouse model, slavotinek: one family
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 11; 614402

Publications

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

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Bertuzzi: mouse model, slavotinek: one family
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 11, 614402

Publications

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

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

Panel version: Imported from Structural eye disease panel version 0.75

Details

Sources

Expert Review Amber
NHS GMS
Emory Genetics Laboratory

Phenotypes

Eye Disorders

OMIM

604294

Clinvar variants

Variants in VAX1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

VAX1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory

Glaucoma (developmental) Gene: VAX1