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Osteogenesis imperfecta

Gene: ENPP1

Red List (low evidence)

ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000197594
EnsemblGeneIds (GRCh37): ENSG00000197594
OMIM: 173335, Gene2Phenotype
ENPP1 is in 15 panels

2 reviews

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

Phenotypes
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2

Publications

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