Palmoplantar keratoderma and erythrokeratodermas

Gene: ENPP1

Green List (high evidence)

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 15 panels

2 reviews

Veronica Kinsler (UCL)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

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.

History Filter Activity

11 Apr 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

13 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Mar 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma)

10 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Jan 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ENPP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ENPP1 was created by rfoulger

5 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ENPP1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other