TUFT1:Ensemblv115

tuftelin 1
OMIM: 600087, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TUFT1 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Literature
  • Expert Review Amber
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415

Amber TUFT1 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415