ANTXR2

anthrax toxin receptor 2
OMIM: 608041, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green ANTXR2 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyaline fibromatosis syndrome, MIM# 228600
    • MONDO:0009229

    Green ANTXR2 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyaline fibromatosis syndrome, MIM# 228600
    • MONDO:0009229

    Green ANTXR2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyaline fibromatosis syndrome 228600

    Green ANTXR2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyaline fibromatosis syndrome, 228600 (3)

    Green ANTXR2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Hyaline fibromatosis syndrome

    Green ANTXR2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hyaline fibromatosis syndrome, MIM# 228600
    • MONDO:0009229

    Green ANTXR2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hyaline fibromatosis syndrome, 228600 (3)

    Red ANTXR2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Hyaline fibromatosis syndrome, MIM# 228600
    • MONDO:0009229

    Green ANTXR2 in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • hyaline fibromatosis syndrome MONDO:0009229