Multiple joint dislocations and laxity
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, 6:16 a.m. | Last Modified: 19 Dec 2020, 6:16 a.m.

Panel Version: 0.5693

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, 6:16 a.m.
Last Modified: 19 Dec 2020, 6:16 a.m.
Panel version: Imported from Mendeliome panel version 0.5693

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Emory Genetics Laboratory
NHS GMS
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ehlers-Danlos syndrome, progeroid type, 2 615349
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640

OMIM

615291

Clinvar variants

Variants in B3GALT6

Penetrance

None

Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Added New Source, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Source Victorian Clinical Genetics Services was added to B3GALT6. Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 for gene: B3GALT6

12 Feb 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: B3GALT6 was added gene: B3GALT6 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS,Emory Genetics Laboratory Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640; Ehlers-Danlos syndrome, progeroid type, 2 615349

Multiple joint dislocations and laxity Gene: B3GALT6