Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: ENPP1

No list

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 14 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Gene should be removed from the panel.
Created: 19 Oct 2015, 8:15 a.m.

Sian Ellard (University of Exeter Medical School)

included in error?
Created: 18 Oct 2015, 8:15 a.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
OMIM
173335
Clinvar variants
Variants in ENPP1
Penetrance
Complete
Panels with this gene

History Filter Activity

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.

7 Jun 2016, Gel status: 0

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been removed from the panel.

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ENPP1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen