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  3. VSX1
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Corneal abnormalities

Gene: VSX1

Green List (high evidence)
VSX1 (visual system homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000100987
EnsemblGeneIds (GRCh37): ENSG00000100987
OMIM: 605020, Gene2Phenotype
VSX1 is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be promoted to green.
Created: 22 Feb 2017, 10:19 a.m.
Created: 22 Feb 2017, 10:19 a.m.

Panel version: 0.133

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Keratoconus 1 148300
OMIM
605020
Clinvar variants
Variants in VSX1
Penetrance
Incomplete
Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VSX1 were set to Keratoconus 1 148300

22 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

VSX1 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

VSX1 was added to Corneal abnormalitiespanel. Sources: Illumina TruGenome Clinical Sequencing Services