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PHACE(S) syndrome

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

Rebecca Foulger (Genomics England curator)

In a patient with infantile hemangioma (MIM:602089), Jinnin et al. (2008, PMID:18931684) identified a heterozygous G-to-A transition in the ANTXR1 (TEM8) gene, resulting in an ala326-to-thr (A326T) transition.
Created: 10 Apr 2017, 1:59 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
OMIM
606410
Clinvar variants
Variants in ANTXR1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Apr 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1: April 12th 2017. At the time of curation (April 2017), no genetic causes of PHACE(s) were reported, and therefore there are no green genes on the V1.0 panel. Based on clinical advice, VHL is not included on the panel.

10 Apr 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

ANTXR1 was added to PHACE(S) syndromepanel. Sources: Radboud University Medical Center, Nijmegen

10 Apr 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ANTXR1 was created by rfoulger