Ichthyosis and erythrokeratoderma
Gene: ENPP1
ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels
2 reviews
Veronica Kinsler (UCL)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Palmoplantar keratodermas
- DDG2P
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised arterial calcification in infancy
- Ichthyosis and erythrokeratoderma
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Skeletal dysplasia
- Fetal anomalies
- Pseudoxanthoma elasticum
- Hypophosphataemia or rickets
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
23 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
3 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ENPP1 was added gene: ENPP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENPP1 were set to 26617416; 24075184; 19380683 Phenotypes for gene: ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma)