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  3. FGD5
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Fetal anomalies

Gene: FGD5

Amber List (moderate evidence)
FGD5 (FYVE, RhoGEF and PH domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000154783
EnsemblGeneIds (GRCh37): ENSG00000154783
OMIM: 614788, Gene2Phenotype
FGD5 is in 1 panel

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

Louise Carr (North Thames Genomic Medicine Service)

I don't know

Case study of chinese couple for with fetal complex congenital heart disease, including pulmonary artery stenosis, a widened aorta with overriding and absence of the ductus arteriousus in their affected fetus, later diagnosied with tetralogy of fallot (PMID:41199744). Two asymptomatic parents, a heterozygous missense variant NM_001320276.2: exon9: c. 3233C>A: p.T1078K of FGD5 was identified in both the affected fetus and unaffected carrier mother, demonstrating an inheritance pattern with irregular dominance. A singualr case (PMID:41574350) with severe peripheral pulmonary artery stenosis and pulmonary arterial hypertension with a de novo heterozygous variant c.1384_1388del, p. Asn463*, premature stop_gain. Other variants identfieid in the proband from WES data. Study looking at genes associated with tetralogy of fallot (PMID:30232381). 1 case with a stop gain FGD5 variant c.3673C>T, p.(Arg1225*) in a 53 year old male. They completed research with knockout mice model (Mutant Prdm1 mice) support a role of FGD5 (as well as other VEGF signaling pathway) in cardiovascular development. Another study (PMID:32037394) identified Stopgain variant p.(Glu322*), maternally inherited, in a proband with pulmonary stenosis (PS), dysplastic pulmonary valve, atrial septal defect (ASD), micrognathia.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital heart disease, tetralogy of Fallout (TOF), peripheral pulmonary artery stenosis (PPS)

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Congenital heart disease, tetralogy of Fallout (TOF), peripheral pulmonary artery stenosis (PPS)
OMIM
614788
Clinvar variants
Variants in FGD5
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: FGD5 was added gene: FGD5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FGD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGD5 were set to 41574350; 41199744; 30232381; 32037394 Phenotypes for gene: FGD5 were set to Congenital heart disease, tetralogy of Fallout (TOF), peripheral pulmonary artery stenosis (PPS)