Generalised arterial calcification in infancy
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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #208000) and the OMIM record was last accessed on 18 December 2025.Created: 18 Dec 2025, 10:57 a.m. | Last Modified: 18 Dec 2025, 10:57 a.m.
Panel Version: 1.3
ENPP1 has been added to the panel for R384 Generalised arterial calcification in infancy with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:18 p.m. | Last Modified: 30 Jun 2023, 1:18 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Arterial calcification, generalized, of infancy, 1, OMIM:208000
- arterial calcification, generalized, of infancy, 1, MONDO:0008817
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- DDG2P
- Intellectual disability
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised arterial calcification in infancy
- Ichthyosis and erythrokeratoderma
- Multi-organ autoimmune diabetes
- Fetal anomalies
- Skeletal dysplasia
- Pseudoxanthoma elasticum
- Hypophosphataemia or rickets
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
18 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ENPP1 were changed from to Arterial calcification, generalized, of infancy, 1, OMIM:208000; arterial calcification, generalized, of infancy, 1, MONDO:0008817
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ENPP1 was added gene: ENPP1 was added to Generalised arterial calcification in infancy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal