Ichthyosis and erythrokeratoderma
Gene: AAGABComment on phenotypes: Previous phenotypes:
Keratoderma, palmoplantar, punctate type IA, 148600;PPKP Buschke-Fischer-Brauer type;Punctate keratoderma and congenital dysplasia of the hip;Punctate keratodermaCreated: 23 Mar 2021, 1:46 p.m. | Last Modified: 23 Mar 2021, 1:46 p.m.
Panel Version: 1.7
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.
Phenotypes for gene: AAGAB were changed from Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma to Keratoderma, palmoplantar, punctate type IA, OMIM:148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip
gene: AAGAB was added gene: AAGAB was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: AAGAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AAGAB were set to 23563198; 24289292; 23000146; 23064416 Phenotypes for gene: AAGAB were set to Keratoderma, palmoplantar, punctate type IA, 148600; PPKP Buschke-Fischer-Brauer type; Punctate keratoderma and congenital dysplasia of the hip; Punctate keratoderma