Renal Ciliopathies and Nephronophthisis
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
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Cannot find evidence of association with ciliopathy phenotypes.Created: 3 Jan 2020, 10:13 a.m. | Last Modified: 3 Jan 2020, 10:13 a.m.
Panel Version: 0.8
Chirag Patel (Genetic Health Queensland)
No renal phenotype reported.Created: 3 Jan 2020, 3:57 a.m. | Last Modified: 3 Jan 2020, 3:57 a.m.
Panel Version: 0.41
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Expert Review Red
- KidGen_CilioNephronop v38.1.0
- Victorian Clinical Genetics Services
- Phenotypes
-
- Axenfeld-Rieger syndrome, type 3, MIM#602482
- OMIM
- 601090
- Clinvar variants
- Variants in FOXC1
- Penetrance
- None
- 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
14 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxc1 has been classified as Red List (Low Evidence).
14 Jan 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FOXC1 were changed from to Axenfeld-Rieger syndrome, type 3, MIM#602482
3 Jan 2020, Gel status: 1
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: foxc1 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOXC1 was added gene: FOXC1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: FOXC1 was set to Unknown