Congenital Disorders of Glycosylation
Gene: B3GALT6

B3GALT6 (beta-1,3-galactosyltransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

B3GALNT6 forms a galactose (Gal)-beta-1,3-Gal linkage via the transfer of Gal from UDP-Gal to a terminal beta-linked Gal residue and functions in the synthesis of heparan sulfate and chondroitin sulfate.

Variants in B3GALT6 have been associated with type 2 spondylodysplastic Ehlers-Danlos syndrome (EDSSPD2; MIM# 615349), type 1 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; MIM#271640), and Al-Gazali syndrome MIM#609465, all of which have overlapping features. Multiple families reported.
Created: 19 Dec 2020, 6:13 a.m. | Last Modified: 19 Dec 2020, 6:13 a.m.

Panel Version: 0.267

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075

Publications

Created: 19 Dec 2020, 6:13 a.m.
Last Modified: 19 Dec 2020, 6:13 a.m.
Panel version: 0.267

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Al-Gazali syndrome, MIM# 609465
Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075

OMIM

615291

Clinvar variants

Variants in B3GALT6

Penetrance

None

Publications

Panels with this gene