1. Genes and Genomic Entities
  2. EXTL3

EXTL3

exostosin like glycosyltransferase 3
OMIM: 605744, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green EXTL3 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
  • London North GLH
  • NHS GMS
  • North West GLH
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • EXTL3 deficiency
  • Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425
Green EXTL3 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
Green EXTL3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
    Green EXTL3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
    Red EXTL3 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
    Green EXTL3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neuro immuno skeletal Dysplasia Syndrome
    Green EXTL3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425