Corneal dystrophy
Gene: VSX1EnsemblGeneIds (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)
Keratoconus is a corneal dystrophy.
Sources: Expert listCreated: 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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: vsx1 has been classified as Red List (Low Evidence).
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
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