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Osteogenesis imperfecta

Gene: PLOD1

Red List (low evidence)

PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)
EnsemblGeneIds (GRCh38): ENSG00000083444
EnsemblGeneIds (GRCh37): ENSG00000083444
OMIM: 153454, Gene2Phenotype
PLOD1 is in 11 panels

3 reviews

Raymond Dalgleish (University of Leicester)

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)

History Filter Activity

23 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLOD1 was added to Osteogenesis Imperfecta panel. Sources: Expert