KRT17

keratin 17
OMIM: 148069, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green KRT17 in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pachyonychia congenita 2 (MIM#167210)

Green KRT17 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 2, MIM#167210
  • Steatocystoma multiplex, MIM# 184500

Green KRT17 in Oligodontia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.29

review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green KRT17 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 2 (MIM#167210)

Green KRT17 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita

Red KRT17 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500