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


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

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

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.36
Latest signed off version: v4.0 (22 Mar 2023)

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