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  2. Corneal Dystrophy
  3. VSX1
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Corneal Dystrophy

Gene: VSX1

Amber List (moderate evidence)
VSX1 (visual system homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000100987
EnsemblGeneIds (GRCh37): ENSG00000100987
OMIM: 605020, Gene2Phenotype
VSX1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Keratoconus is a corneal dystrophy. Some of the variants reported have a high population frequency, more consistent with a risk allele rather than a Mendelian gene-disease association.
Created: 27 Jul 2020, 8:59 a.m. | Last Modified: 19 Mar 2022, 2:16 a.m.
Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Keratoconus 1, MIM# 148300

Publications

Created: 27 Jul 2020, 8:59 a.m.
Last Modified: 19 Mar 2022, 2:16 a.m.
Panel version: 1.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratoconus 1, MIM# 148300
OMIM
605020
Clinvar variants
Variants in VSX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: VSX1 were set to

19 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vsx1 has been classified as Amber List (Moderate Evidence).

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: vsx1 has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: VSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: VSX1 was added gene: VSX1 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VSX1 was set to Unknown