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  2. Familial and multiple pulmonary arteriovenous malformations
  3. FOXF1
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Familial and multiple pulmonary arteriovenous malformations

Gene: FOXF1

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

2 reviews

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.
Created: 13 Dec 2016, 12:33 p.m.

Panel version: 0.29

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.
Created: 13 Nov 2016, 11:22 p.m.

Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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

13 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

13 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

13 Dec 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

FOXF1All sources for gene: FOXF1 were removed

13 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

13 Dec 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins 265380

13 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for FOXF1 were set to 27071622

19 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen

30 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: Radboud University Medical Center, Nijmegen

30 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Source: UKGTN

30 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FOXF1 was created by ellenmcdonagh

30 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXF1 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Illumina TruGenome Clinical Sequencing Services