Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Arthrogryposis

Gene: COL6A1

Green List (high evidence)

COL6A1 (collagen type VI alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000142156
EnsemblGeneIds (GRCh37): ENSG00000142156
OMIM: 120220, Gene2Phenotype
COL6A1 is in 9 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

all missense/inframe. G2P lists as monoallelic
Created: 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)

Green List (high evidence)

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • 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
OMIM
120220
Clinvar variants
Variants in COL6A1
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.

21 Dec 2016, Gel status: 4

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

21 Dec 2016, 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: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for COL6A1 were set to Ullrich congenital muscular dystrophy 1 254090 ; Bethlem myopathy 1 158810

21 Dec 2016, Gel status: 4

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

21 Dec 2016, Gel status: 0

Set Mode of Inheritance

Alice Gardham (Genomics England)

Model of inheritance for gene COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL6A1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL6A1 was added to Arthrogryposispanel. Sources: Expert list