Hereditary neuropathy or pain disorder
Gene: COL6A3

COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 12 panels

1 review

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Case series of 35 patients showing evidence of both a peripheral motor neuropathy and myopathy
Sources: Expert list
Created: 16 Aug 2026, 9:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
motor neuropathy; myopathy

Publications

42520849

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 16 Aug 2026, 9:29 p.m.

Panel version: 8.31

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

motor neuropathy
myopathy

OMIM

120250

Clinvar variants

Variants in COL6A3

Penetrance

None

Publications

42520849

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

16 Aug 2026, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: COL6A3 was added gene: COL6A3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to 42520849 Phenotypes for gene: COL6A3 were set to motor neuropathy; myopathy Mode of pathogenicity for gene: COL6A3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: COL6A3 was set to GREEN

Hereditary neuropathy or pain disorder Gene: COL6A3