1. Genes and Genomic Entities
  2. ANTXR1

ANTXR1

anthrax toxin receptor 1
OMIM: 606410, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red ANTXR1 in PHACE(S) syndrome

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {?Hemangioma, capillary infantile, susceptibility to} , OMIM:602089
Red ANTXR1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {?Hemangioma, capillary infantile, susceptibility to} , OMIM:602089
Red ANTXR1 in Vascular skin disorders


Version 1.63
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • {?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089
Green ANTXR1 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • GAPO syndrome, OMIM:230740
Green ANTXR1 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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • GAPO syndrome, OMIM:230740
    Amber ANTXR1 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
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • {Hemangioma, capillary infantile, susceptibility to}, 602089
    • GAPO syndrome, 230740
    Green ANTXR1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • GAPO syndrome, 230740