1. Panels
  2. Anophthalmia or microphthalmia
  3. VAX1
STRs in panel
Prev Next
Regions in panel
Prev Next

Anophthalmia or microphthalmia

Gene: VAX1

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

2 reviews

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert
Created: 10 May 2016, 11:52 a.m.
Created: 10 May 2016, 11:52 a.m.

Panel version: 0.15

David FitzPatrick (University of Edinburgh)

Red List (low evidence)

This is however a good candidate gene which we would follow up from a research point of view
Created: 8 Dec 2015, 1:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 8 Dec 2015, 1:30 p.m.

Panel version: 0

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, syndromic 11, 614402
OMIM
604294
Clinvar variants
Variants in VAX1
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

VAX1 was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

VAX1 was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen