B3GLCT

beta 3-glucosyltransferase
OMIM: 610308, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Red B3GLCT in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green B3GLCT in Hydrocephalus


Version 2.116
Latest signed off version: v2.3 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Peters-plus syndrome, OMIM:261540

Green B3GLCT in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.76
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
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Peters-plus syndrome 261540
    • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

    Green B3GLCT in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.84
    Latest signed off version: v2.76 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • Peters-plus syndrome

    Green B3GLCT in Corneal abnormalities

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • GDL Corneal Abnormalities panel
    Phenotypes
    • Peters-plus syndrome 261540

    Green B3GLCT in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.44

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Peters-plus syndrome, 261540

    Green B3GLCT in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.126
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Peters-plus syndrome 261540
    • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

    Green B3GLCT in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    • Peters-plus syndrome 261540
    • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

    Green B3GLCT in Inborn errors of metabolism


    Version 2.180
    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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Peters-plus syndrome 261540
    • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    • O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

    Green B3GLCT in Fetal anomalies


    Version 1.717
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • PETERS-PLUS SYNDROME 261540

    Green B3GLCT in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • PETERS-PLUS SYNDROME

    Red B3GLCT in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.42

    review Not set
    Sources
    • Emory Genetics Laboratory

    Green B3GLCT in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    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
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Peters-plus syndrome, 261540

    Red B3GLCT in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.209
    Latest signed off version: v2.195 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Green B3GLCT in Structural eye disease


    Version 1.81
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Peters-plus syndrome 261540
    • Eye Disorders

    Red B3GLCT in Childhood onset dystonia or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

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

    Green B3GLCT in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peters-plus syndrome, 261540