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Prepair 1000+

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 13 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The COL6A3 gene is associated with Bethlem myopathy 1C MIM#620726 and Ullrich congenital muscular dystrophy 1C MIM#620728, both have reports of AD & AR (OMIM).

For carrier screening testing, the only relevant associations are with COL6A3 AR conditions, which are due to loss-of-function variants, typically nonsense or frameshift variants. However, biallelic missense variants may be pathogenic when located near the C-terminal end of the TH domain (GeneReviews PMID: 20301676).

According to GeneReviews, these conditions represent a continuum of overlapping clinical phenotypes with Bethlem at the milder end and Ullrich at the more severe end of the spectrum.

The reportability of variants associated with Bethlem for Prepair might need to be assessed case-by-case by determining if there is association with severe early-onset.

NB: COL6A3 association with dystonia 27 MIM#616411 is amber in PanelApp. Patients with dystonia reported by Wu R et al 2023 presented a late onset of symptoms (Table 1) and all variants were regarded as VUS (Table 2) (PMID: 37082441).
Created: 8 Jan 2025, 2:32 a.m. | Last Modified: 8 Jan 2025, 2:32 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bethlem myopathy 1C MIM#620726; Ullrich congenital muscular dystrophy 1C MIM#620728

Publications

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col6a3 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL6A3 were changed from Ullrich congenital muscular dystrophy 1, 254090 (3) to Ullrich congenital muscular dystrophy 1, MIM#254090

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL6A3 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL6A3 was added gene: COL6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)