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  3. ANTXR1
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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 6 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Comment when marking as ready: Confers susceptibility to skin haemangiomas. Not associated with cerebral vascular malformation
Created: 12 Dec 2016, 2:30 p.m.
Confers susceptibility to skin haemangiomas. Not associated with cerebral vascular malformation
Created: 12 Dec 2016, 2:30 p.m.
Created: 12 Dec 2016, 2:30 p.m.

Panel version: 0.20

Details

Mode of Inheritance
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
OMIM
606410
Clinvar variants
Variants in ANTXR1
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Feb 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ANTXR1 were changed from {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to} to {?Hemangioma, capillary infantile, susceptibility to} , OMIM:602089

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ANTXR1.

29 Nov 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ANTXR1.

19 Dec 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

12 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

9 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ANTXR1 was added to Cerebrovascular disorderspanel. Source: Other Model of inheritance for gene ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ANTXR1 was created by ellenmcdonagh

9 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ANTXR1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen