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Osteogenesis imperfecta

Gene: POC1A

Red List (low evidence)

POC1A (POC1 centriolar protein A)
EnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 10 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)

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813
OMIM
614783
Clinvar variants
Variants in POC1A
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POC1A was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen