EXT2

exostosin glycosyltransferase 2
OMIM: 608210, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green EXT2 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.58

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome 616682
    • Exostoses, multiple, type 2 133701
    • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

    Green EXT2 in Mendeliome


    Version 1.2302

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome, MIM#616682

    Green EXT2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome, MIM#616682

    Green EXT2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome, MIM#616682

    Green EXT2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.302

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Expert Review
    • Victorian Clinical Genetics Services
    Phenotypes
    • Exostoses, multiple, type 2 133701

    Green EXT2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Exostoses, multiple, type 2

    Green EXT2 in Fetal anomalies


    Version 1.313

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome, MIM#616682
    • Exostoses, multiple, type 2, MIM# 133701

    Red EXT2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome, MIM#616682

    Green EXT2 in Sarcoma non-soft tissue


    Level 2: Cancer Predisposition
    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Sarcoma, MONDO:0005089
    • Exostoses, multiple, type 2, MONDO:0007586
    • Exostoses, multiple, type 2, MIM#133701