1. Panels
  2. Familial diabetes
  3. ENPP1
STRs in panel
Prev Next

Familial diabetes

Gene: ENPP1

No list
ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 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.
Created: 25 Jan 2019, 11:49 a.m.

Panel version: Imported from Monogenic diabetes panel version 0.11

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sian Ellard (University of Exeter Medical School)

This is not a monogenic diabetes gene
Created: 23 Aug 2015, 4:37 p.m.
Created: 23 Aug 2015, 4:37 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}, 601665Arterial calcification, generalized, of infancy, 1, 208000Hypophos
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.

26 Feb 2021, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: enpp1 has been removed from the panel.

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

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