Monogenic diabetes
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
3 reviews
Ivone Leong (Genomics England Curator)
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)
Sian Ellard (University of Exeter Medical School)
This is not a monogenic diabetes geneCreated: 23 Aug 2015, 4:37 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Removed
- 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
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- None
- 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.
30 Jan 2019, Gel status: 0
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
25 Jan 2019, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to ENPP1. Rating Changed from Red List (low evidence) to No List (delete)
18 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ENPP1 was added gene: ENPP1 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: ENPP1 was set to Unknown Phenotypes for gene: ENPP1 were set to 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