Limb girdle muscular dystrophy

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 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:28 p.m. | Last Modified: 28 Nov 2019, 5:28 p.m.
Panel Version: 1.176

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

congenital myopathy
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Bethlem myopathy; Ullrich congenital muscular dystrophy

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ullrich congenital muscular dystrophy 2, 616470

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Ullrich congenital muscular dystrophy 2, 616470
  • Bethlem myopathy
OMIM
120320
Clinvar variants
Variants in COL12A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: col12a1 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COL12A1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to COL12A1.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: COL12A1 were changed from Ullrich congenital muscular dystrophy 2, 616470 to Ullrich congenital muscular dystrophy 2, 616470; Bethlem myopathy

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene COL12A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Ullrich congenital muscular dystrophy 2, 616470 for gene: COL12A1 Publications for gene COL12A1 were changed from to 24334604

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COL12A1 was added gene: COL12A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: COL12A1 was set to