1. Genes and Genomic Entities
  2. EXT2

EXT2

exostosin glycosyltransferase 2
OMIM: 608210, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels
Green EXT2 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.40

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Exostoses, multiple, type 2 133701
Green EXT2 in Congenital disorders of glycosylation

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    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)
    Amber EXT2 in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.25

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Exostoses, multiple, type 2
    Amber EXT2 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.29
    Latest signed off version: v2.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Other
    Phenotypes
    • Exostoses, multiple, type 2
    Green EXT2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert list
    • UKGTN
    Phenotypes
    • Exostoses, multiple, type 2, OMIM:133701
    Tags
    • watchlist_moi
    Green EXT2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
    • ?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 Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
    • Exostoses, multiple, type 2 133701
    • ?Seizures, scoliosis, and macrocephaly syndrome 616682
    Green EXT2 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EXOSTOSES, MULTIPLE, TYPE 2
    No list EXT2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green EXT2 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EXOSTOSES, MULTIPLE, TYPE 2 133701
    Green EXT2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682
    • seizures-scoliosis-macrocephaly syndrome, MONDO:0014731
    Green EXT2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Seizures, scoliosis, and macrocephaly syndrome, 616682
    • autosomal recessive EXT2-related syndrome
    Green EXT2 in Sarcoma susceptibility


    Version 1.81
    Latest signed off version: v1.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Other
    Phenotypes
    • Exostoses, multiple, type 2, OMIM:133701
    • Exostoses, multiple, type 2, MONDO:0007586
    Red EXT2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green EXT2 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Exostoses, multiple, type 2, 133701
    • Seizures, scoliosis, and macrocephaly syndrome, 616682
    Green EXT2 in Multiple exostoses


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green