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  3. COL6A3
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Cerebral Palsy

Gene: COL6A3

Red List (low evidence)
COL6A3 (collagen type VI alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000163359
EnsemblGeneIds (GRCh37): ENSG00000163359
OMIM: 120250, Gene2Phenotype
COL6A3 is in 13 panels

1 review

Clare van Eyk (University of Adelaide)

Red List (low evidence)

2 individuals reported with biallelic variants in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 28 May 2024, 5:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 27, MIM#616411

Publications

Created: 28 May 2024, 5:30 a.m.

Panel version: 1.194

History Filter Activity

28 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col6a3 has been classified as Red List (Low Evidence).

28 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col6a3 has been classified as Red List (Low Evidence).

28 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: COL6A3 was added gene: COL6A3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL6A3 were set to PMID: 38693247 Phenotypes for gene: COL6A3 were set to Dystonia 27, MIM#616411 Review for gene: COL6A3 was set to RED