Palmoplantar keratoderma and erythrokeratodermas
Gene: AAGAB
Comment when marking as ready: Rated as green, and mode of inheritance complete. Not yet a DD-confirmed gene for OMIM:148600 but sufficient evidence from literature and OMIM.Created: 5 Jan 2017, 4:15 p.m.
Comment on list classification: Updating rating from Red to Green: 1 green review plus >3 variants in unrelated cases listed in OMIM for type I punctate palmoplantar keratoderma (OMIM:148600) from different populations (Scottish, Japanese, Tunisian, German and Croatian).Created: 5 Jan 2017, 4:13 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 5 Jan 2017, 4:07 p.m.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; Punctate keratoderma and congenital dysplasia of the hip; PPKP Buschke-Fischer-Brauer type;
This gene has been classified as Green List (High Evidence).
Publications for AAGAB were set to 23000146; 23064416; 23563198; 24289292
Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; punctate keratoderma and congenital dysplasia of the hip; PPKP Buschke-Fischer-Brauer type;
Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; punctate keratoderma and congenital dysplasia of the hip; punctate palmoplantar keratoderma (PPKP) type Buschke-Fischer-Brauer;
Mode of inheritance for AAGAB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; Punctate keratoderma; punctate keratoderma and congenital dysplasia of the hip
AAGAB was created by ellenmcdonagh
AAGAB was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen