1. Panels
  2. Cerebral vascular malformations
  3. ANTXR1
STRs in panel
Prev Next
Regions in panel
Prev Next

Cerebral vascular malformations

Gene: ANTXR1

Red List (low evidence)
ANTXR1 (anthrax toxin receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169604
EnsemblGeneIds (GRCh37): ENSG00000169604
OMIM: 606410, Gene2Phenotype
ANTXR1 is in 10 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

GAPO syndrome is a complex condition and is associated with various phenotypes.
Abnormal cerebral vasculature has been reported in one individual from Turkey.
CVM is doesn’t appear to be a common feature of this condition or associated with this gene.
Created: 25 Nov 2024, 10:08 p.m. | Last Modified: 25 Nov 2024, 10:08 p.m.
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GAPO syndrome MONDO:0009263

Publications

Created: 25 Nov 2024, 10:08 p.m.
Last Modified: 25 Nov 2024, 10:08 p.m.
Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • GAPO syndrome MONDO:0009263
OMIM
606410
Clinvar variants
Variants in ANTXR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: antxr1 has been classified as Red List (Low Evidence).

26 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ANTXR1 were changed from {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to} to GAPO syndrome MONDO:0009263

26 Nov 2024, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ANTXR1 were set to

26 Nov 2024, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ANTXR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

18 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ANTXR1 was added gene: ANTXR1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ANTXR1 were set to {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to}