Palmoplantar Keratoderma and Erythrokeratoderma
Gene: AAGAB

AAGAB (alpha and gamma adaptin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000103591
EnsemblGeneIds (GRCh37): ENSG00000103591
OMIM: 614888, Gene2Phenotype
AAGAB is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30451279;
- 14 families with PTVs, splice and 1x start loss

PMID: 26608363;
- 26 affecteds from 14 families
- PTVs + 1x missense + 3x start loss + 3x splice
Created: 12 Aug 2020, 12:12 a.m. | Last Modified: 12 Aug 2020, 12:12 a.m.

Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Keratoderma, palmoplantar, punctate type IA (MIM#148600)

Publications

Created: 12 Aug 2020, 12:12 a.m.
Last Modified: 12 Aug 2020, 12:12 a.m.
Panel version: 0.8

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Keratoderma, palmoplantar, punctate type IA (MIM#148600)

OMIM

614888

Clinvar variants

Variants in AAGAB

Penetrance

None

Publications

Panels with this gene