Hereditary haemorrhagic telangiectasiaGene: FOXF1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported. Phenotype not relevant to this panel according to expert reviewer Clair Shovlin (Imperial College London)
Created: 13 Dec 2016, 12:33 p.m.
The FOXF1 phenotypes of alveolar capillary dysplasia with misalignment of pulmonary veins (PMID:27071622), and single case of diffuse capillary hemangiomatosis (PMID:
26462560) involve the pulmonary circulation but do not currently overlap with pulmonary arteriovenous malformations.
Created: 13 Nov 2016, 11:22 p.m.
Publications for FOXF1 were set to 27071622;26462560;27071622
This gene has been classified as Red List (Low Evidence).
FOXF1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FOXF1 was created by ellenmcdonagh