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STRs in panel
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Skeletal dysplasia

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 9 panels

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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

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

COL12A1 was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL12A1 was created by sleigh