ANTXR2

anthrax toxin receptor 2
OMIM: 608041, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber ANTXR2 in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.26
Latest signed off version: v4.25 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Green ANTXR2 in Arthrogryposis


Level 2: Neurology
Version 10.23
Latest signed off version: v10.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyaline fibromatosis syndrome 228600
Green ANTXR2 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 10.5
Latest signed off version: v10.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Hyaline fibromatosis syndrome 228600
    Green ANTXR2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    Phenotypes
    • Hyaline fibromatosis syndrome 228600