Familial and multiple pulmonary arteriovenous malformations
Gene: FOXF1Comment 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.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
FOXF1All sources for gene: FOXF1 were removed
FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Model of inheritance for gene FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Publications for FOXF1 were set to 27071622
FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen
FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen
FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: UKGTN
FOXF1 was created by ellenmcdonagh
FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services