1. Genes and Genomic Entities
  2. EXTL3

EXTL3

exostosin like glycosyltransferase 3
OMIM: 605744, Gene2Phenotype

8 panels

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


Level 2: Viral research
Version 1.142

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


Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

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


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

    		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 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 4.180
    Latest signed off version: v4.0 (22 Mar 2023)

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


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

    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 - 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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Immunoskeletal dysplasia with neurodevelopmental abnormalities, OMIM:617425
    Green EXTL3 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425