VSX2

visual system homeobox 2
OMIM: 142993, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green VSX2 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.39

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia with coloboma 3, MIM# 610092
  • Microphthalmia, isolated 2, MIM# 610093

Green VSX2 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green VSX2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia with coloboma 3, MIM# 610092
  • Microphthalmia, isolated 2, MIM# 610093

Green VSX2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia with coloboma 3, 610092 (3)

Red VSX2 in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 0.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • smooth irides
    • lens subluxation
    • cone-rod dysfunction
    • high myopia

    Green VSX2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microphthalmia with coloboma 3, MIM# 610092
    • Microphthalmia, isolated 2, MIM# 610093

    Green VSX2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microphthalmia with coloboma 3, 610092 (3)

    Green VSX2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microphthalmia with coloboma 3, 610092 (3)