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  2. Osteogenesis imperfecta
  3. COL10A1
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Osteogenesis imperfecta

Gene: COL10A1

Red List (low evidence)
COL10A1 (collagen type X alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000123500
EnsemblGeneIds (GRCh37): ENSG00000123500
OMIM: 120110, Gene2Phenotype
COL10A1 is in 5 panels

3 reviews

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Metaphyseal chondrodysplasia, Schmid type

Publications

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Chris Boustred (Genomics England)

Comment when marking as ready: Keep as red as disagreement between reviewers
Created: 10 May 2016, 12:45 p.m.
Created: 10 May 2016, 12:45 p.m.

Panel version: 0.27

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Red List (low evidence)

Remove from panel
Created: 27 Nov 2015, 3:04 p.m.
Created: 27 Nov 2015, 3:04 p.m.

Panel version: 0

Details

Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Disproportionate Short Stature
OMIM
120110
Clinvar variants
Variants in COL10A1
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL10A1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory