AAGAB:Ensemblv90

alpha and gamma adaptin binding protein
OMIM: 614888, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green AAGAB in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA (MIM#148600)

Green AAGAB in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.137

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA (MIM#148600)

Green AAGAB in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA (MIM#148600)