ANTXR1

anthrax toxin receptor 1
OMIM: 606410, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red ANTXR1 in PHACE(S) syndrome Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.4	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 2: Neurology Version 5.3 Latest signed off version: v5.2 (12 Aug 2026)	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
Amber ANTXR1 in Ectodermal dysplasia Level 2: Dermatology Version 5.15 Latest signed off version: v5.4 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes GAPO syndrome, OMIM:230740 GAPO syndrome, MONDO:0009263 Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome Tags Q4_26_promote_green
Red ANTXR1 in Vascular skin disorders Level 2: Dermatology Version 2.8 Latest signed off version: v2.7 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH Expert Review Red NHS GMS Phenotypes {?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089
Amber ANTXR1 in Optic neuropathy Level 2: Ophthalmology Version 6.53 Latest signed off version: v6.46 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes GAPO syndrome, OMIM:230740 GAPO syndrome, MONDO:0009263 Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome Tags Q4_26_promote_green
Amber ANTXR1 in Skeletal dysplasia Level 2: Musculoskeletal Version 10.35 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes GAPO syndrome, OMIM:230740 GAPO syndrome, MONDO:0009263 Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome Tags Q4_26_promote_green
Green ANTXR1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes GAPO syndrome, OMIM:230740
Green ANTXR1 in DDG2P Version 8.2 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GAPO syndrome, OMIM:230740
Red ANTXR1 in Intellectual disability Level 2: Developmental disorders Version 11.86 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes GAPO syndrome, OMIM:230740 GAPO syndrome, MONDO:0009263 Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome