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Arthrogryposis

Gene: COL6A3

Green List (high evidence)

COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 10 panels

2 reviews

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P and listed as biallelic
Created: 21 Dec 2016, 2:33 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ullrich congenital muscular dystrophy 1 254090

Publications

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Ullrich congenital muscular dystrophy 1 254090
  • Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
OMIM
120250
Clinvar variants
Variants in COL6A3
Penetrance
Complete
Publications
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

Added New Source

Ellen McDonagh (Genomics England Curator)

COL6A3 was added to Arthrogryposispanel. Source:

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 COL6A3 were set to Ullrich congenital muscular dystrophy 1 254090

21 Dec 2016, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for COL6A3 were set to 11992252

21 Dec 2016, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

COL6A3 was added to Arthrogryposispanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL6A3 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL6A3 was created by ellenmcdonagh