Gene: FOXC1

Red List (low evidence)

FOXC1 (forkhead box C1)
EnsemblGeneIds (GRCh38): ENSG00000054598
EnsemblGeneIds (GRCh37): ENSG00000054598
OMIM: 601090, Gene2Phenotype
FOXC1 is in 16 panels

2 reviews

Zornitza Stark (Australian Genomics)

I don't know

Seven FOXC1 'pathogenic' variants in 8 CAKUT families identified through WES. All individuals carrying the FOXC1 pathogenic variants are heterozygote. There was incomplete penetrance and variable expressivity in families. None of the 7 pathogenic variants were reported before in patients with Axenfeld–Rieger syndrome, anterior segment dysgenesis, or congenital glaucoma. Two of the seven pathogenic variants are novel, i.e., they were never observed in the population database before, including the gnomAD database that collects 141,456 control individuals.34 The other five pathogenic variants, though reported in the population database, are present in less than five individuals as a heterozygote. The locations of these pathogenic variants do not cluster in the forkhead domain (where variants causing Axenfeld–Rieger syndrome or anterior segment dysgenesis are located).
Created: 5 Oct 2020, 9:13 a.m. | Last Modified: 5 Oct 2020, 9:13 a.m.
Panel Version: 1.153

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Congenital anomalies of the kidney and urinary tract (CAKUT)


Helen Stuart (University of Manchester)

Red List (low evidence)

History Filter Activity

22 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXC1 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list