Palmoplantar keratoderma and erythrokeratodermas

Gene: ENPP1

Green List (high evidence)

Comment when marking as ready: Green Expert review plus >3 cases supporting causation, and MOI confirmed by OMIM and literature.

Created: 13 Mar 2017, 9:12 a.m.

Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus >3 cases supporting causation from various populations.

Created: 13 Mar 2017, 9:12 a.m.

Comment on list classification: Updated rating from Red to Amber ready for external review. >3 cases of ENPP1 mutations linked to Cole disease (OMIM:615522).

Created: 10 Jan 2017, 3:17 p.m.

PMID:26617416 (Schlipf et al., 2016) report 2 novel heterozygous missense mutations in ENPP1 in individuals with Cole disease. Family A includes an affected woman of German origin. Family B originates from Spain and comprises several affected family members.

Created: 10 Jan 2017, 3:15 p.m.

Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and PMID:24075184.

Created: 9 Jan 2017, 10:45 a.m.

Eytan et al., 2013 (PMID:24075184) report three heterozygous ENPP1 mutations in three unrelated families with Cole disease. Families A and C are of French origin, and Family B originates from the United States. Cole disease is characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs, but not the trunk or acral regions (PMID:24075184).

Created: 9 Jan 2017, 10:44 a.m.