1. Genes and Genomic Entities
  2. AAGAB

AAGAB

alpha and gamma adaptin binding protein
OMIM: 614888, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green AAGAB in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA, 148600
  • Punctate keratoderma
  • Punctate keratoderma and congenital dysplasia of the hip
  • PPKP Buschke-Fischer-Brauer type
Green AAGAB in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA, OMIM:148600
  • PPKP Buschke-Fischer-Brauer type
  • Punctate keratoderma and congenital dysplasia of the hip
Green AAGAB in Palmoplantar keratodermas


Version 3.25
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma