Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: ENPP1
ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 16 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
- Tags
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratodermas
- DDG2P
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Palmoplantar keratoderma and erythrokeratodermas
- Generalised arterial calcification in infancy
- Ichthyosis and erythrokeratoderma
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Skeletal dysplasia
- Fetal anomalies
- Pseudoxanthoma elasticum
- Hypophosphataemia or rickets
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
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.
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