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Osteogenesis imperfecta

Gene: COL5A1

Red List (low evidence)

COL5A1 (collagen type V alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 12 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)

COL5A1 was added to Osteogenesis Imperfecta panel. Sources: Expert