VSX1

visual system homeobox 1
OMIM: 605020, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green VSX1 in Corneal abnormalities

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Keratoconus 1 148300

Red VSX1 in Corneal dystrophies


Version 1.6
Latest signed off version: v1.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Keratoconus 1, OMIM:148300, MONDO:0007851

Amber VSX1 in Structural eye disease


Version 1.52
Latest signed off version: v1.3 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Keratoconus 1, 148300
  • Corneal dystrophy, posterior polymorphous, 1, 122000
  • Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195