VSX1

visual system homeobox 1
OMIM: 605020, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber VSX1 in Corneal Dystrophy


Level 2: Ophthalmological disorders
Version 1.10

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratoconus 1, MIM# 148300

Amber VSX1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratoconus 1, MIM# 148300

Red VSX1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Keratoconus

Red VSX1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Keratoconus