Arthrogryposis
Gene: COL6A1EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 8 panels
4 reviews
Eleanor Williams (Genomics England Curator)
The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 3:39 p.m. | Last Modified: 30 Jan 2023, 3:39 p.m.
Panel Version: 4.5
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A1 is associated with two relevant disorders which include multiple joint contractures, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090).Created: 26 Oct 2021, 12:17 p.m. | Last Modified: 26 Oct 2021, 12:17 p.m.
Panel Version: 3.131
Alice Gardham (Genomics England)
all missense/inframe. G2P lists as monoallelicCreated: 21 Dec 2016, 2:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ullrich congenital muscular dystrophy 1 254090 ; Bethlem myopathy 1 158810
Publications
Emma Clement (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bethlem myopathy; Ullrich Congenital Muscular Dystrophy; Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090{Ossification of the posterior longitudinal spinal ligaments}, 602475 (2)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Phenotypes
-
- Bethlem myopathy 1, OMIM:158810
- Ullrich congenital muscular dystrophy 1, OMIM:254090
- OMIM
- 120220
- Clinvar variants
- Variants in COL6A1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q4_21_MOI was removed from gene: COL6A1.
Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COL6A1. Mode of inheritance for gene COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_MOI tag was added to gene: COL6A1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL6A1 were changed from Ullrich congenital muscular dystrophy 1 254090; Bethlem myopathy 1 158810; Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090{Ossification of the posterior longitudinal spinal ligaments}, 602475 (2); Bethlem myopathy; Ullrich Congenital Muscular Dystrophy to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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.
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)COL6A1 was added to Arthrogryposispanel. Source: Model of inheritance for gene COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for COL6A1 were set to Ullrich congenital muscular dystrophy 1 254090 ; Bethlem myopathy 1 158810
Upload gene information
Alice Gardham (Genomics England)COL6A1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Set Mode of Inheritance
Alice Gardham (Genomics England)Model of inheritance for gene COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)COL6A1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)COL6A1 was added to Arthrogryposispanel. Sources: Expert list