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PHACE(S) syndrome

Gene: FLT4

Red List (low evidence)
FLT4 (fms related tyrosine kinase 4)
EnsemblGeneIds (GRCh38): ENSG00000037280
EnsemblGeneIds (GRCh37): ENSG00000037280
OMIM: 136352, Gene2Phenotype
FLT4 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

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.
Created: 10 Apr 2017, 2:58 p.m.

Panel version: 0.3

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemangioma, capillary infantile, somatic, 602089
OMIM
136352
Clinvar variants
Variants in FLT4
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: 0

Created

Rebecca Foulger (Genomics England curator)

FLT4 was created by rfoulger

10 Apr 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

FLT4 was added to PHACE(S) syndromepanel. Sources: Radboud University Medical Center, Nijmegen