Congenital Disorders of Glycosylation

Gene: B3GAT3

Green List (high evidence)

B3GAT3 (beta-1,3-glucuronyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 28 Nov 2020, 4:51 a.m. | Last Modified: 28 Nov 2020, 4:51 a.m.
Panel Version: 0.231

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600

Publications

History Filter Activity

28 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3gat3 has been classified as Green List (High Evidence).

28 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600

28 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: B3GAT3 were set to

28 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B3GAT3 was added gene: B3GAT3 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GAT3 was set to Unknown