Vascular skin disorders
Gene: ANTXR1

ANTXR1 (anthrax toxin receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169604
EnsemblGeneIds (GRCh37): ENSG00000169604
OMIM: 606410, Gene2Phenotype
ANTXR1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: ANTXR1; Suggested initial gene rating: Red; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

Created: 31 Jan 2019, 12:05 p.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
Expert Review Red
NHS GMS

Phenotypes

{?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089

OMIM

606410

Clinvar variants

Variants in ANTXR1

Penetrance

None

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 Susceptibility to infantile haemangioma to {?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to ANTXR1.

31 Jan 2019, Gel status: 1

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