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Alveolar capillary dysplasia with misalignment of pulmonary veins

Gene: FOXF1

Green List (high evidence)

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #265380) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 9:20 p.m. | Last Modified: 17 Dec 2025, 9:20 p.m.
Panel Version: 1.7

Eleanor Williams (Genomics England Curator)

FOXF1 has been added to the panel for the clinical indication 'R330 Alveolar capillary dysplasia with misalignment of pulmonary veins' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 14 Jan 2023, 7:07 p.m. | Last Modified: 14 Jan 2023, 9:30 p.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380
  • alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934
OMIM
601089
Clinvar variants
Variants in FOXF1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FOXF1 were changed from to Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; alveolar capillary dysplasia with misalignment of pulmonary veins, MONDO:0009934

14 Jan 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: FOXF1 was added gene: FOXF1 was added to Alveolar capillary dysplasia with misalignment of pulmonary veins. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown