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Mackenzie's Mission_Reproductive Carrier Screening

Gene: COL6A2

Green List (high evidence)

COL6A2 (collagen type VI alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000142173
EnsemblGeneIds (GRCh37): ENSG00000142173
OMIM: 120240, Gene2Phenotype
COL6A2 is in 10 panels

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Details

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL6A2 was added gene: COL6A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)