Cerebral vascular malformations
Gene: FOXF1EnsemblGeneIds (GRCh38): ENSG00000103241
EnsemblGeneIds (GRCh37): ENSG00000103241
OMIM: 601089, Gene2Phenotype
FOXF1 is in 8 panels
1 review
Alice Gardham (Genomics England)
Comment on list classification: Only associated with vascular malformations in the lungs -not the brainCreated: 12 Dec 2016, 10:28 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
- OMIM
- 601089
- Clinvar variants
- Variants in FOXF1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to FOXF1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FOXF1.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)FOXF1 was added to Cerebrovascular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)FOXF1 was added to Cerebrovascular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)FOXF1 was created by ellenmcdonagh