SMARCAD1

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

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber SMARCAD1 in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Basan syndrome, 129200 palmoplantar keratoderma Tags watchlist
Red SMARCAD1 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.21 Latest signed off version: v4.16 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Adermatoglyphia, OMIM:136000 Basan syndrome, OMIM:129200 Huriez syndrome, OMIM:181600 isolated congenital adermatoglyphia, MONDO:0007619 absence of fingerprints-congenital milia syndrome, MONDO:0007507 palmoplantar keratoderma-sclerodactyly syndrome, MONDO:0008416
Amber SMARCAD1 in Palmoplantar keratodermas Level 2: Dermatology Version 4.20 Latest signed off version: v4.16 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Adermatoglyphia, OMIM:136000 Basan syndrome, OMIM:129200 Huriez syndrome, OMIM:181600 isolated congenital adermatoglyphia, MONDO:0007619 absence of fingerprints-congenital milia syndrome, MONDO:0007507 palmoplantar keratoderma-sclerodactyly syndrome, MONDO:0008416 Tags Q3_26_promote_green
Amber SMARCAD1 in Arthrogryposis Level 2: Neurology Version 10.23 Latest signed off version: v10.16 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Adermatoglyphia, OMIM:136000 Basan syndrome, OMIM:129200 Huriez syndrome, OMIM:181600 isolated congenital adermatoglyphia, MONDO:0007619 absence of fingerprints-congenital milia syndrome, MONDO:0007507 palmoplantar keratoderma-sclerodactyly syndrome, MONDO:0008416