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Fetal anomalies

Gene: FOXD2

Amber List (moderate evidence)
FOXD2 (forkhead box D2)
EnsemblGeneIds (GRCh38): ENSG00000186564
EnsemblGeneIds (GRCh37): ENSG00000186564
OMIM: 602211, Gene2Phenotype
FOXD2 is in 2 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

PMID 38154558 - Three CAKUT families with homozygous FOXD2 variants and consistent mouse model.Family 1: proband with facial dysmorphism, developmental delay, and congenital bilateral hypoplastic kidneys and homozygous c.789dup, p.(Gly264Argfs_228). Three affected cousins, one tested and also homozygous.Family 2: bilateral hypoplastic kidneys, dysmorphism. Affected sister. c.628A>G, p.(Met210Val) in DNA binding domain, highly conserved/missense constrained region.Family 3: Small kidneys noted at 35w gestation. Postnatally, bilateral dysplastic kidneys. c.629T>G, p.(Met210Arg) - same residue as in family 2.Foxd2 knockout mice presented with a bilateral dilated kidney pelvis accompanied by atrophy of the kidney papilla and mandibular, ophthalmologic, and behavioral anomalies, recapitulating the human phenotype.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital anomaly of kidney and urinary tract, MONDO:0019719

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • congenital anomaly of kidney and urinary tract, MONDO:0019719
OMIM
602211
Clinvar variants
Variants in FOXD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: FOXD2 was added gene: FOXD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FOXD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXD2 were set to 38154558 Phenotypes for gene: FOXD2 were set to congenital anomaly of kidney and urinary tract, MONDO:0019719