Palmoplantar Keratoderma and Erythrokeratoderma

Gene: SNAP29

Green List (high evidence)

At least 5 families with biallelic LoF variants associated with a multisystem disorder that includes both ichthyosis and palmar keratoderma later in development.

PMID 15968592: Describes individuals from 2 unrelated consanguineous Arab Muslim families with CEDNIK syndrome. Palmoplantar keratosis and ichthyosis appeared between 5 and 11 months of age. Variant was a homozygous frameshift.

PMID 21073448: Brother and sister from a consanguineous Pakistani family with CEDNIK syndrome. Phenotypes included palmoplantar keratosis and ichthyosis. Variant was a homozygous frameshift (8 hets in gnomAD).

PMID 25958742: describes another Arab family with a homozygous frameshift variant.

PMID 29051910: one more American Jordanian family with a homozygous nonsense variant.

Created: 12 Aug 2020, 8 a.m. | Last Modified: 12 Aug 2020, 8 a.m.

Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)

Publications

• 15968592
• 21073448
• 25958742
• 29051910

Variants in this GENE are reported as part of current diagnostic practice