KRT6A

keratin 6A
OMIM: 148041, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KRT6A in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.20

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pachyonychia congenita 3 MIM#615726

Green KRT6A in Mendeliome


Version 1.2302

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 3 (MIM#615726)

Green KRT6A in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pachyonychia congenita 3 (MIM#615726)

Green KRT6A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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

Red KRT6A in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Pachyonychia congenita 3 (MIM#615726)