Palmoplantar keratoderma and erythrokeratodermasGene: 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
This gene has been classified as Amber List (Moderate Evidence).
Publications for SMARCAD1 were set to 24664640; 26932190; 24909267
Publications for SMARCAD1 were set to 24664640; 26932190
SMARCAD1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other
SMARCAD1 was created by rfoulger