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Inborn errors of metabolism

Gene: B3GALT6

Green List (high evidence)

B3GALT6 (beta-1,3-galactosyltransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 11 panels

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History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 for gene: B3GALT6

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: B3GALT6 was added gene: B3GALT6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT6 were set to 23664117; 23664118 Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2