TUFT1

tuftelin 1
OMIM: 600087, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TUFT1 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.27

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415

Green TUFT1 in Mendeliome


Version 1.4601

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415

Green TUFT1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.144

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415

Green TUFT1 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 0.109

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415