Ichthyosis and erythrokeratoderma

Gene: SMARCAD1

Amber List (moderate evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Basan syndrome, 129200
  • palmoplantar keratoderma
Tags
watchlist
OMIM
612761
Clinvar variants
Variants in SMARCAD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 2

Added Tag

Ellen McDonagh (Genomics England Curator)

Tag watchlist tag was added to gene: SMARCAD1.

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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