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  3. ARHGEF40
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Fetal anomalies

Gene: ARHGEF40

Amber List (moderate evidence)
ARHGEF40 (Rho guanine nucleotide exchange factor 40)
EnsemblGeneIds (GRCh38): ENSG00000165801
EnsemblGeneIds (GRCh37): ENSG00000165801
OMIM: 610018, Gene2Phenotype
ARHGEF40 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

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

I don't know

PMID 39838643: De novo missense variants at p.Arg225 (p.Arg225Trp and p.Arg225Gln) in two unrelated patients with developmental delay, craniofacial dysmorphism, short stature, hearing impairment, ocular abnormalities and variable additional features. IUGR in one patient and suspected talipes in the other. Only two cases reported but may be prenatally relevant.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital anomalies and developmental delay

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Congenital anomalies and developmental delay
OMIM
610018
Clinvar variants
Variants in ARHGEF40
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Congenital anomalies and developmental delay for gene: ARHGEF40

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ARHGEF40 was added gene: ARHGEF40 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ARHGEF40 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted