B3GLCT

beta 3-glucosyltransferase
OMIM: 610308, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Green B3GLCT in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.230

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

Green B3GLCT in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.43

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

Green B3GLCT in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peters-plus syndrome, MIM# 261540

Green B3GLCT in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green B3GLCT in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.60

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Peters-plus syndrome (MIM# 261540)

    Green B3GLCT in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.127

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green B3GLCT in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Peters-plus syndrome, MIM#261540

    Green B3GLCT in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green B3GLCT in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Peters Plus Syndrome (MIM 261540)
    • Peters anomaly
    • Growth retardation
    • Brachydactyly
    • ID

    Green B3GLCT in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    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 Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peters-plus syndrome, 261540 (3)

    Green B3GLCT in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Peters-Plus syndrome

    Green B3GLCT in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

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

    Green B3GLCT in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.76

    Component of the following Super Panels:

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

    Green B3GLCT in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Expert list
    Phenotypes
    • Peters-plus syndrome, MIM#261540

    Green B3GLCT in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peters-plus syndrome, MIM# 261540

    Red B3GLCT in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Peters-plus syndrome, MIM#261540

    Green B3GLCT in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Peters-plus syndrome, 261540 (3)