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Congenital Heart Defect

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)

26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.
Created: 24 Nov 2023, 7:06 a.m. | Last Modified: 24 Nov 2023, 7:06 a.m.
Panel Version: 0.392

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

24 Nov 2023, 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).

24 Nov 2023, 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

24 Nov 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: B3GAT3 were set to

24 Nov 2023, 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 Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B3GAT3 was set to Unknown