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Prepair 1000+

Gene: ENPP1

Green List (high evidence)

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 12 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The ENPP1 gene is associated with both AD & AR conditions (OMIM).

For carrier screening testing, the only relevant conditions are the AR conditions: Arterial calcification, generalized, of infancy, 1 (GACI) and Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2).

These likely represent a spectrum of a single disorder, rather than two distinct disorders. GACI is more severe and most patients die in infancy, whereas ARHR2 is a milder form.

There is no well established genotype-phenotype correlation. There is substantial heterogeneity in disease severity, even among patients with the same variant (PMID: 36150100).
Created: 8 Jan 2025, 6:24 a.m. | Last Modified: 8 Jan 2025, 6:24 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Arterial calcification, generalized, of infancy, 1 MIM#208000
  • Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312
OMIM
173335
Clinvar variants
Variants in ENPP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: enpp1 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ENPP1 were changed from Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) to Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ENPP1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) for gene: ENPP1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ENPP1 was added gene: ENPP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)