Ocular coloboma
Gene: VSX2EnsemblGeneIds (GRCh38): ENSG00000119614
EnsemblGeneIds (GRCh37): ENSG00000119614
OMIM: 142993, Gene2Phenotype
VSX2 is in 9 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microphthalmia/coloboma 3, OMIM:610092
- OMIM
- 142993
- Clinvar variants
- Variants in VSX2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 to Microphthalmia/coloboma 3, OMIM:610092
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for VSX2 were set to Microphthalmia with coloboma 3, 610092
Set publications
Alice Gardham (Genomics England)Publications for VSX2 were set to 10932181, 24859618
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for VSX2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)VSX2 was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Eik Haraldsdottir (Genomics England)VSX2 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen