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Osteogenesis imperfecta

Gene: COL12A1

Red List (low evidence)

COL12A1 (collagen type XII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000111799
EnsemblGeneIds (GRCh37): ENSG00000111799
OMIM: 120320, Gene2Phenotype
COL12A1 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)

Phenotypes
Bethlem Myopathy 2; Ullrich Congenital Muscular Dystrophy 2

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Lung cancer, susceptibility to, association with}(Rudd (2006) Genome Res 16,693)
  • Bethlem-like myopathy (Hicks (2014) Hum Mol Genet 23,2353)
  • Joint hypermobility syndrome with myopathy (Zou (2014) Hum Mol Genet 23, 2339)
OMIM
120320
Clinvar variants
Variants in COL12A1
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL12A1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen