Palmoplantar keratoderma and erythrokeratodermas
Gene: ENPP1
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.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma)
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for ENPP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
ENPP1 was created by rfoulger
ENPP1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other