B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2
OMIM: 610194, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green B3GALNT2 in Hydrocephalus


Version 2.131
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181

Green B3GALNT2 in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital muscular dystrophies
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11

Green B3GALNT2 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
    • congenital muscular dystrophies

    Green B3GALNT2 in Congenital disorders of glycosylation

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 2.92
    Latest signed off version: v2.4 (4 Mar 2020)

    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
    • UKGTN
    • Emory Genetics Laboratory
    • Literature
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181

    Red B3GALNT2 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.110
    Latest signed off version: v2.76 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11

    Green B3GALNT2 in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.148
    Latest signed off version: v2.2 (25 Feb 2020)

    Component of the following Super Panels:

  • Cerebral malformations
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181

    Green B3GALNT2 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.31
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
    • congenital muscular dystrophies

    Green B3GALNT2 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.161
    Latest signed off version: v3.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
    • congenital muscular dystrophies

    Green B3GALNT2 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
    • congenital muscular dystrophies

    Green B3GALNT2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.542

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11

    Green B3GALNT2 in Inborn errors of metabolism


    Version 2.263
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11

    Green B3GALNT2 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071

    Amber B3GALNT2 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181

    Green B3GALNT2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11

    Green B3GALNT2 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy type A11, 615181

    Green B3GALNT2 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181

    Red B3GALNT2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green B3GALNT2 in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181