Multi-organ autoimmune diabetes

Gene: ENPP1

No list

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

Sian Ellard (University of Exeter Medical School)

Remove gene from panel
Created: 8 Dec 2015, 2:32 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}, 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

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

22 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

21 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ENPP1 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen