Familial diabetes

Gene: ENPP1

Red List (low evidence)

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

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Sian Ellard (University of Exeter Medical School)

This is not a monogenic diabetes gene
Created: 23 Aug 2015, 4:37 p.m.

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}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
OMIM
173335
Clinvar variants
Variants in ENPP1
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ENPP1 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen