SNAI2

snail family transcriptional repressor 2
OMIM: 602150, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber SNAI2 in Mendeliome


Version 1.2655

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 1.215

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 1.70

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

Amber SNAI2 in Hereditary Pigmentary Disorders


Level 2: Dermatological disorders
Version 1.3

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • piebaldism MONDO:0008244
  • Waardenburg syndrome type 2D MONDO:0012144