1. Genes and Genomic Entities
  2. SNAI2

SNAI2

snail family transcriptional repressor 2
OMIM: 602150, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SNAI2 in Pigmentary skin disorders


Level 2: Dermatology
Version 5.2
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Waardenburg syndrome type 2, MONDO:0019517
  • piebaldism, MONDO:0008244
Tags
  • watchlist
Amber SNAI2 in Monogenic hearing loss


Level 2: Audiology
Version 6.10
Latest signed off version: v6.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Waardenburg syndrome, type 2D, OMIM:608890
    • Waardenburg syndrome type 2, MONDO_0019517