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 0.416

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 1.2302

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 0.302

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 1.313

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 1.1566

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hyaline fibromatosis syndrome, MIM# 228600
  • MONDO:0009229
Red ANTXR2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

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