PHACE(S) syndromeGene: FLT4
In 1 of 15 infantile hemangioma (MIM:602089) specimens, Walter et al. (2002, PMID:11807987) found a Pro954Ser (P954S) missense mutation in the kinase insert of the FLT4 gene.
Created: 10 Apr 2017, 2:58 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.
FLT4 was created by rfoulger
FLT4 was added to PHACE(S) syndromepanel. Sources: Radboud University Medical Center, Nijmegen