SNAI2

snail family transcriptional repressor 2
OMIM: 602150, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SNAI2 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Waardenburg syndrome, type 2D, MIM# 608890
  • Piebaldism, MIM# 172800

Amber SNAI2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Waardenburg syndrome, type 2D, MIM# 608890

Amber SNAI2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Waardenburg syndrome, type 2D, MIM# 608890