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Osteogenesis imperfecta

Gene: OFD1

Red List (low evidence)

OFD1 (OFD1, centriole and centriolar satellite protein)
EnsemblGeneIds (GRCh38): ENSG00000046651
EnsemblGeneIds (GRCh37): ENSG00000046651
OMIM: 300170, Gene2Phenotype
OFD1 is in 29 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)

History Filter Activity

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

OFD1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory