Osteogenesis imperfecta
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
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Phenotypes
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2
Publications
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 173335
- Clinvar variants
- Variants in ENPP1
- Penetrance
- Complete
- Panels with this gene
-
- Osteogenesis imperfecta
- Hypophosphataemia or rickets
- Palmoplantar keratodermas
- Palmoplantar keratoderma and erythrokeratodermas
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Generalised arterial calcification in infancy
- Skeletal dysplasia
- Intellectual disability
- Familial diabetes
- DDG2P
- Multi-organ autoimmune diabetes
- Pigmentary skin disorders
- Ichthyosis and erythrokeratoderma
- Pseudoxanthoma elasticum
- Fetal anomalies
History Filter Activity
23 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ENPP1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory