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  3. VSX2
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Cone-rod Dystrophy

Gene: VSX2

Red List (low evidence)
VSX2 (visual system homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000119614
EnsemblGeneIds (GRCh37): ENSG00000119614
OMIM: 142993, Gene2Phenotype
VSX2 is in 8 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single consanguineous case reported with cone-rod dysfunction as a feature of a retinal phenotype.
Sources: Expert list
Created: 22 May 2020, 7:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
smooth irides; lens subluxation; cone-rod dysfunction; high myopia

Publications

Created: 22 May 2020, 7:06 a.m.

Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • smooth irides
  • lens subluxation
  • cone-rod dysfunction
  • high myopia
OMIM
142993
Clinvar variants
Variants in VSX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vsx2 has been classified as Red List (Low Evidence).

22 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: VSX2 was added gene: VSX2 was added to Cone-rod Dystrophy. Sources: Expert list Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VSX2 were set to 24001013 Phenotypes for gene: VSX2 were set to smooth irides; lens subluxation; cone-rod dysfunction; high myopia Review for gene: VSX2 was set to RED