Multi-organ autoimmune diabetes
Gene: ENPP1

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Removed due to expert review.
Created: 22 Jul 2016, 3:13 p.m.

Created: 22 Jul 2016, 3:13 p.m.

Panel version: 0.54

Sian Ellard (University of Exeter Medical School)

Remove gene from panel
Created: 8 Dec 2015, 2:32 p.m.

Created: 8 Dec 2015, 2:32 p.m.

Panel version: 0

Details

Sources

Expert Review Removed
Radboud University Medical Center, Nijmegen

Phenotypes

Ossification of posterior longitudinal ligament of spine, 602475
{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853
{Obesity, susceptibility to}, 601665
Arterial calcification, generalized, of infancy, 1, 208000
Hypophos

Tags

curated_removed

OMIM

173335

Clinvar variants

Variants in ENPP1

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: ENPP1.

25 Jul 2016, Gel status: 0