Stroke
Gene: FOXC1
FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>3 cases reported with stroke and a zebrafish model.
Sources: LiteratureCreated: 11 May 2020, 7:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stroke; cerebral small-vessel disease
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Stroke
- cerebral small-vessel disease
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Joubert syndrome and other neurological ciliopathies
- Stroke
- Skeletal dysplasia
- Glaucoma congenital
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Eye Anterior Segment Abnormalities
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Callosome
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
11 May 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: foxc1 has been classified as Green List (High Evidence).
11 May 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: foxc1 has been classified as Green List (High Evidence).
11 May 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: FOXC1 was added gene: FOXC1 was added to Stroke. Sources: Literature Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXC1 were set to 29751260; 31719132; 25250569 Phenotypes for gene: FOXC1 were set to Stroke; cerebral small-vessel disease Review for gene: FOXC1 was set to GREEN