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

Green SMARCAD1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Huriez syndrome, OMIM #181600
  • Basan syndrome, MIM# 129200
  • Adermatoglyphia, MIM# 136000

Green SMARCAD1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Basan syndrome, MIM#129200
  • Huriez syndrome, OMIM #181600