Ichthyosis and erythrokeratodermaGene: SMARCAD1
Comment on list classification: Added to panel based on cases of Basan syndrome and adermatoglyphia presenting with PPK. Rated as Amber based on advice from Arianna Tucci: PPK is not a major feature and patients would not be expected to be recruited under this condition.
Created: 12 Jun 2017, 12:32 p.m.
SMARCAD1 mutations also cause adermatoglyphia, which has been reported with PPK (PMID:24909267).
Created: 12 Jun 2017, 12:29 p.m.
Additional features of Basan syndrome (MIM:129200) may include palmoplantar keratoderma. PPK reported as feature of Basan syndrome in at least 2 families: PMID:26932190 and PMID:24664640.
Created: 12 Jun 2017, 12:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Basan syndrome, 129200; palmoplantar keratoderma
Tag watchlist tag was added to gene: SMARCAD1.
gene: SMARCAD1 was added gene: SMARCAD1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber Mode of inheritance for gene: SMARCAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMARCAD1 were set to 24909267; 26932190; 24664640 Phenotypes for gene: SMARCAD1 were set to Basan syndrome, 129200; palmoplantar keratoderma