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  2. Structural eye disease
  3. VAX1
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Structural eye disease

Gene: VAX1

Amber List (moderate evidence)
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: 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: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Microphthalmia, syndromic 11, 614402
OMIM
604294
Clinvar variants
Variants in VAX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to VAX1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to VAX1. Mode of inheritance for gene VAX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Microphthalmia, syndromic 11, 614402 for gene: VAX1 Publications for gene VAX1 were changed from to 10601035; 22095910

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: VAX1 was added gene: VAX1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: VAX1 was set to Phenotypes for gene: VAX1 were set to Microphthalmia, syndromic 11, 614402