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Severe Paediatric Disorders

Gene: ENPP1

Green List (high evidence)

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 17 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ENPP1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arterial calcification, generalized, of infancy, 1, 208000 (3) | Cole disease, 615522 (3) | Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Arterial calcification, generalized, of infancy, 1, 208000
  • Cole disease, 615522
  • Hypophosphatemic rickets, autosomal recessive, 2, 613312
OMIM
173335
Clinvar variants
Variants in ENPP1
Penetrance
None
Publications
Panels with this gene