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| Congenital Disorders of Glycosylation v0.270 | B3GALT6 | Zornitza Stark Marked gene: B3GALT6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.270 | B3GALT6 | Zornitza Stark Gene: b3galt6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.270 | B3GALT6 | Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.269 | B3GALT6 | Zornitza Stark Publications for gene: B3GALT6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.268 | B3GALT6 | Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.267 | B3GALT6 |
Zornitza Stark changed review comment from: 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.; to: 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. |
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| Congenital Disorders of Glycosylation v0.267 | B3GALT6 | Zornitza Stark reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25149931, 29443383, 23664117, 29931299, 23664117, 23664118, 31614862; 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; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | B3GALT6 |
Zornitza Stark gene: B3GALT6 was added gene: B3GALT6 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GALT6 was set to Unknown |
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