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 4.18
Latest signed off version: v4.0 (30 Apr 2025)

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


Level 2: Neurology
Version 9.34
Latest signed off version: v9.0 (30 Apr 2025)

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 8.46
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
    • 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 6.194
    Latest signed off version: v6.0 (30 Apr 2025)

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