1. Panels
  2. Aortopathy_Connective Tissue Disorders
  3. COL12A1
STRs in panel
Prev Next
Regions in panel
Prev Next

Aortopathy_Connective Tissue Disorders

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 6 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Additional biallelic patients have been reported at VCGS (c.6067+1G>A), and papers (PMID: 37353357; c.395-1G>A| PMID: 37458870; p.Pro2943Leu)
Created: 23 Jan 2024, 2:41 a.m. | Last Modified: 23 Jan 2024, 2:41 a.m.
Panel Version: 1.79

Publications

Created: 23 Jan 2024, 2:41 a.m.
Last Modified: 23 Jan 2024, 2:41 a.m.
Panel version: 1.79

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

One of the 19 EDS genes recognised by the International EDS Consortium (PMID: 28306229).
18 cases from 12 unrelated families have been reported with monoallelic variants (both de novo and inherited), and one family has been reported with a homozygous variant. A null mouse model recapitulates the phenotype.
Sources: Expert list
Created: 1 Jul 2020, 7:57 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathic EDS; Bethlem myopathy 2 MIM#616471; Ullrich congenital muscular dystrophy 2 MIM#616470

Publications

Created: 1 Jul 2020, 7:57 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathic EDS
  • Bethlem myopathy 2 MIM#616471
  • Ullrich congenital muscular dystrophy 2 MIM#616470
OMIM
120320
Clinvar variants
Variants in COL12A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2024, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: COL12A1 were set to 28306229; 31273343; 24334604

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col12a1 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: col12a1 has been classified as Green List (High Evidence).

1 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: COL12A1 was added gene: COL12A1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL12A1 were set to 28306229; 31273343; 24334604 Phenotypes for gene: COL12A1 were set to Myopathic EDS; Bethlem myopathy 2 MIM#616471; Ullrich congenital muscular dystrophy 2 MIM#616470 Review for gene: COL12A1 was set to GREEN