Palmoplantar keratoderma and erythrokeratodermas
Gene: SMARCAD1

SMARCAD1 (SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1)
EnsemblGeneIds (GRCh38): ENSG00000163104
EnsemblGeneIds (GRCh37): ENSG00000163104
OMIM: 612761, Gene2Phenotype
SMARCAD1 is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

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

Phenotypes
Basan syndrome, 129200; palmoplantar keratoderma

Created: 12 Jun 2017, 12:29 p.m.

Panel version: 1.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
Other

Phenotypes

Basan syndrome, 129200
palmoplantar keratoderma

Tags

watchlist

OMIM

612761

Clinvar variants

Variants in SMARCAD1

Penetrance

Complete

Publications

Panels with this gene