Arthrogryposis
Gene: COL6A1The 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
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
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
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)
Tag Q4_21_MOI was removed from gene: COL6A1.
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
Tag Q4_21_MOI tag was added to gene: COL6A1.
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
Mode of inheritance for gene: COL6A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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.
COL6A1 was added to Arthrogryposispanel. Source: Model of inheritance for gene COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Phenotypes for COL6A1 were set to Ullrich congenital muscular dystrophy 1 254090 ; Bethlem myopathy 1 158810
COL6A1 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Model of inheritance for gene COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
COL6A1 was created by ellenmcdonagh
COL6A1 was added to Arthrogryposispanel. Sources: Expert list