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Arthrogryposis

Gene: COL12A1

Green List (high evidence)

COL12A1 (collagen type XII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000111799
EnsemblGeneIds (GRCh37): ENSG00000111799
OMIM: 120320, Gene2Phenotype
COL12A1 is in 8 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: expert review green
Created: 4 Jan 2017, 3:13 p.m.
Comment on list classification: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital as well) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis
Created: 4 Jan 2017, 3:13 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ullrich congenital muscular dystrophy 2, bethlem myopathy 2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ullrich congenital muscular dystrophy 2, bethlem myopathy 2
OMIM
120320
Clinvar variants
Variants in COL12A1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

4 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL12A1 was added to Arthrogryposispanel. Sources: Expert Review

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL12A1 was created by ellenmcdonagh