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  3. SGSM3
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Fetal anomalies

Gene: SGSM3

Amber List (moderate evidence)
SGSM3 (small G protein signaling modulator 3)
EnsemblGeneIds (GRCh38): ENSG00000100359
EnsemblGeneIds (GRCh37): ENSG00000100359
OMIM: 610440, Gene2Phenotype
SGSM3 is in 3 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

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

1/13 cases had hypoplastic corpus callosum. Otherwise no antenatally detectable features.
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
Intellectual developmental disorder, autosomal recessive 84, OMIM:620401; intellectual developmental disorder, autosomal recessive 84, MONDO:0980746

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
  • Intellectual developmental disorder, autosomal recessive 84, OMIM:620401
  • intellectual developmental disorder, autosomal recessive 84, MONDO:0980746
OMIM
610440
Clinvar variants
Variants in SGSM3
Penetrance
None
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: SGSM3 was added gene: SGSM3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGSM3 were set to Intellectual developmental disorder, autosomal recessive 84, OMIM:620401; intellectual developmental disorder, autosomal recessive 84, MONDO:0980746