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Fetal anomalies

Gene: RAPGEF2

Amber List (moderate evidence)
RAPGEF2 (Rap guanine nucleotide exchange factor 2)
EnsemblGeneIds (GRCh38): ENSG00000109756
EnsemblGeneIds (GRCh37): ENSG00000109756
OMIM: 609530, Gene2Phenotype
RAPGEF2 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

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

I don't know

Bereshneh et al, 2026: 5 unrelated individuals: developmental delay (4/5), intellectual disability (3/5), behavioral abnormalities (3/5), vision deficits (3/5), dysmorphic features (3/5), early onset epilepsy (2/5), recurrent infections (2/5), cardiac abnormalities (1/5), hypotonia (1/5). Drosophila functional studies. Given only 1 individual has structural anomalies that could be seen on scan, think not appropriate for green now. Amber, watch and wait.
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
neurodevelopmental disorder, MONDO:0700092

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
  • neurodevelopmental disorder, MONDO:0700092
OMIM
609530
Clinvar variants
Variants in RAPGEF2
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: RAPGEF2 was added gene: RAPGEF2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RAPGEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAPGEF2 were set to 41556274 Phenotypes for gene: RAPGEF2 were set to neurodevelopmental disorder, MONDO:0700092