Hereditary haemorrhagic telangiectasia

Gene: FOXF1

Red List (low evidence)

FOXF1 (forkhead box F1)
EnsemblGeneIds (GRCh38): ENSG00000103241
EnsemblGeneIds (GRCh37): ENSG00000103241
OMIM: 601089, Gene2Phenotype
FOXF1 is in 7 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alveolar capillary dysplasia with misalignment of pulmonary veins 265380

Publications

Sarah Leigh (Genomics England Curator)

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.

Claire Shovlin (Imperial College London)

Red List (low evidence)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
OMIM
601089
Clinvar variants
Variants in FOXF1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Dec 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FOXF1 were set to 27071622;26462560;27071622

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXF1 was added to Hereditary haemorrhagic telangiectasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

14 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FOXF1 was created by ellenmcdonagh