Clefting
Gene: VAX1
VAX1 (ventral anterior homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000148704
EnsemblGeneIds (GRCh37): ENSG00000148704
OMIM: 604294, Gene2Phenotype
VAX1 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000148704
EnsemblGeneIds (GRCh37): ENSG00000148704
OMIM: 604294, Gene2Phenotype
VAX1 is in 5 panels
1 review
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
One patient only reported to date (22095910) with biallelic mutations in VAX1. The patient presented with severe microphthalmia and small optic nerves, bilateral cleft lip and palate, and agenesis of the corpus callosum. Marked as red as not enough patients reported to be greenCreated: 31 May 2017, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROPHTHALMIA, SYNDROMIC 11; MCOPS11
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- MICROPHTHALMIA, SYNDROMIC 11
- MCOPS11
- OMIM
- 604294
- Clinvar variants
- Variants in VAX1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VAX1 was created by ellenmcdonagh
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)VAX1 was added to Cleftingpanel. Sources: Expert Review Red