1. Panels
  2. Fetal anomalies
  3. FOXC1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: FOXC1

Green List (high evidence)
FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ARS can present antenatally with congenital heart disease and umbilical defects.
Created: 4 Jan 2022, 12:15 a.m. | Last Modified: 4 Jan 2022, 12:15 a.m.
Panel Version: 0.1762

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Axenfeld-Rieger syndrome, type 3, MIM# 602482

Publications

Created: 3 Jan 2020, 10:13 a.m.
Last Modified: 3 Jan 2020, 10:13 a.m.
Panel version: 0.1762

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

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
Created: 3 Jan 2020, 3:57 a.m.
Last Modified: 3 Jan 2020, 3:57 a.m.
Panel version: Imported from Renal Ciliopathies and Nephronophthisis panel version 0.41

History Filter Activity

4 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxc1 has been classified as Green List (High Evidence).

4 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXC1 were changed from AXENFELD-RIEGER SYNDROME TYPE 3; IRIDOGONIODYSGENESIS ANOMALY; PETERS ANOMALY to Axenfeld-Rieger syndrome, type 3, MIM# 602482

4 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXC1 were set to 32720677

4 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FOXC1 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 publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXC1 was added gene: FOXC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXC1 were set to 32720677 Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3; IRIDOGONIODYSGENESIS ANOMALY; PETERS ANOMALY