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 4.13
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Piebaldism
Amber SNAI2 in Monogenic hearing loss


Level 2: Audiology
Version 5.57
Latest signed off version: v5.0 (30 Apr 2025)

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