SIX6

SIX homeobox 6
OMIM: 606326, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green SIX6 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
  • Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550

Green SIX6 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, MIM# 212550

Amber SIX6 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927