Corneal dystrophies

Gene: VSX1

Red List (low evidence)

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support a gene-disease association for this gene; however, this gene has been given a Red rating as it does not fit in the scope of the clinical indication for this panel.
Created: 15 Dec 2020, 10:59 a.m. | Last Modified: 15 Dec 2020, 10:59 a.m.
Panel Version: 1.6

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Keratoconus is a corneal dystrophy.
Sources: Expert list
Created: 27 Jul 2020, 8:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Keratoconus 1, MIM# 148300

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Keratoconus 1, OMIM:148300, MONDO:0007851
OMIM
605020
Clinvar variants
Variants in VSX1
Penetrance
None
Panels with this gene

History Filter Activity

15 Dec 2020, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: vsx1 has been classified as Red List (Low Evidence).

15 Dec 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VSX1 were changed from Keratoconus 1, MIM# 148300 to Keratoconus 1, OMIM:148300, MONDO:0007851

27 Jul 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: VSX1 was added gene: VSX1 was added to Corneal dystrophies. Sources: Expert list Mode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VSX1 were set to Keratoconus 1, MIM# 148300 Review for gene: VSX1 was set to GREEN gene: VSX1 was marked as current diagnostic