SMARCAD1

SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
OMIM: 612761, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber SMARCAD1 in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Basan syndrome, 129200
  • palmoplantar keratoderma
Tags
  • watchlist
Amber SMARCAD1 in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Basan syndrome, OMIM:129200
  • palmoplantar keratoderma
Tags
  • watchlist