VSX2

visual system homeobox 2
OMIM: 142993, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green VSX2 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

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

Green VSX2 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green VSX2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Red VSX2 in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 1.0

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

Green VSX2 in Fetal anomalies


Version 2.0

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

Green VSX2 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microphthalmia with coloboma 3, MIM# 610092
  • Microphthalmia, isolated 2, MIM# 610093

Green VSX2 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microphthalmia with coloboma 3, MIM# 610092
  • Microphthalmia, isolated 2, MIM# 610093