1. Genes and Genomic Entities
  2. B3GAT3

B3GAT3

beta-1,3-glucuronyltransferase 3
OMIM: 606374, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red B3GAT3 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Green B3GAT3 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Emory Genetics Laboratory
    Phenotypes
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
    • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    Green B3GAT3 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
    • Larsen alike phenotype (skd incl)
    Green B3GAT3 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
    • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    Green B3GAT3 in Likely inborn error of metabolism - targeted testing not possible


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
    • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    Green B3GAT3 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
    Green B3GAT3 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Craniosynostosis and bone fragility
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects OMIM:245600
    • Larsen-like syndrome, B3GAT3 type MONDO:0009511
    Red B3GAT3 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
    Red B3GAT3 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review 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
    Red B3GAT3 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Red
    Phenotypes
    • MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
    • JDSCD
    Red B3GAT3 in Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • London South GLH
    Phenotypes
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
    • B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    Red B3GAT3 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green B3GAT3 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600