PanelApp (staging)
  1. Genes and Genomic Entities
  2. EXT1

EXT1

exostosin glycosyltransferase 1
OMIM: 608177, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green EXT1 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Exostoses, multiple, type 1 133700
    • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

    Green EXT1 in Mendeliome


    Version 1.2302

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • hereditary multiple osteochondromas MONDO:0005508
    • exostoses, multiple, type 1 MONDO:0007585

    Green EXT1 in Skeletal dysplasia

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

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • trichorhinophalangeal syndrome type 2 -150230
    • Exostoses, multiple, type 13370
    • Exostoses, multiple, type 1 133700

    Green EXT1 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 1

    Green EXT1 in Fetal anomalies


    Version 1.313

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Exostoses, multiple, type 1 133700
    • Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

    Red EXT1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Exostoses, multiple, type 1, MIM# 133700

    Green EXT1 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 1, MONDO:0007585
    • Exostoses, multiple, type 1, MIM#133700