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Fetal anomalies

Gene: FOXF1

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

The disorder is associated with persistent pulmonary hypertension of the neonate and shows varying degrees of lability and severity. Affected infants present with respiratory distress resulting from pulmonary hypertension in the early postnatal period, and the disease is uniformly fatal within the newborn period. Additional features of ACDMPV include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs.

Over 50 families reported.
Created: 13 Dec 2021, 3:47 a.m. | Last Modified: 13 Dec 2021, 3:47 a.m.
Panel Version: 0.1241

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Dec 2021, 3:47 a.m.
Last Modified: 13 Dec 2021, 3:47 a.m.
Panel version: 0.1241

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380
OMIM
601089
Clinvar variants
Variants in FOXF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxf1 has been classified as Green List (High Evidence).

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXF1 were changed from ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS to Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXF1 were set to

13 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FOXF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXF1 was added gene: FOXF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS