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DDG2P

Gene: VSX2

Green List (high evidence)

VSX2 (visual system homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000119614
EnsemblGeneIds (GRCh37): ENSG00000119614
OMIM: 142993, Gene2Phenotype
VSX2 is in 10 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease MICROPHTHALMIA ISOLATED TYPE 2, OMIM:610093 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product. The DDG2P confidence category for the disease MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, OMIM:610092 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain.
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES, OMIM:610092; MICROPHTHALMIA ISOLATED TYPE 2, OMIM:610093

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: loss of function, uncertain
Created: 19 Nov 2018, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MICROPHTHALMIA ISOLATED TYPE 2 610093
  • MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092
  • MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092
OMIM
142993
Clinvar variants
Variants in VSX2
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MICROPHTHALMIA ISOLATED TYPE 2 610093 for gene: VSX2

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092 for gene: VSX2

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: VSX2 was added gene: VSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092