Corneal dystrophiesGene: VSX1
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
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
Keratoconus 1, MIM# 148300
Variants in this GENE are reported as part of current diagnostic practice
Gene: vsx1 has been classified as Red List (Low Evidence).
Phenotypes for gene: VSX1 were changed from Keratoconus 1, MIM# 148300 to Keratoconus 1, OMIM:148300, MONDO:0007851
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