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DDG2P

Gene: B3GAT3

Red List (low evidence)

B3GAT3 (beta-1,3-glucuronyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P, September 2019: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame. DDG2P allelic requirement: biallelic.
Created: 8 Oct 2019, 3:13 p.m. | Last Modified: 8 Oct 2019, 3:13 p.m.
Panel Version: 1.130

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600
OMIM
606374
Clinvar variants
Variants in B3GAT3
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: B3GAT3 was added gene: B3GAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GAT3 were set to 31438591 Phenotypes for gene: B3GAT3 were set to MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600 Mode of pathogenicity for gene: B3GAT3 was set to Other - please provide details in the comments