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