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Intellectual disability

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 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Zornitza Stark, there are eight families reported with the same variant from the same Ashkenazi Jewish ancestry and the variant co-segregated with the disease in all family members. This gene should therefore be rated amber with the current evidence.

The 'founder-effect' tag has been added as 1 in 52 Ashkenazi Jews carry the variant.
Created: 5 Jan 2024, 8:10 p.m. | Last Modified: 5 Jan 2024, 8:11 p.m.
Panel Version: 5.373

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Created: 5 Jan 2024, 8:05 p.m.
Last Modified: 5 Jan 2024, 8:11 p.m.
Panel version: 5.371

Zornitza Stark (Australian Genomics)

I don't know

PMID: 37833060
- 13 patients from 8 families of Ashkenazi Jewish origin all had the same homozygous frameshift variant (c.981dup). Predicted to cause NMD. The variant co-segregated with disease in all available family members. The affected individuals displayed mild global developmental delay and mild to moderate intellectual disability. Additional features observed included hypotonia, behavioural challenges and short stature. Considered a founder variant (1 in 52 Ashkenazi Jews carry the variant). Also present in other populations but no homozygotes in gnomAD.
Sources: Literature
Created: 3 Nov 2023, 6:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO:0700092), SGSM3-related

Publications

Created: 3 Nov 2023, 6:20 a.m.

Panel version: 5.332

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
founder-effect
OMIM
610440
Clinvar variants
Variants in SGSM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: sgsm3 has been classified as Amber List (Moderate Evidence).

5 Jan 2024, Gel status: 0

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: sgsm3 has been removed from the panel.

5 Jan 2024, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag founder-effect tag was added to gene: SGSM3.

5 Jan 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SGSM3 were changed from Neurodevelopmental disorder (MONDO:0700092), SGSM3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

3 Nov 2023, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SGSM3 was added gene: SGSM3 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: SGSM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSM3 were set to 37833060 Phenotypes for gene: SGSM3 were set to Neurodevelopmental disorder (MONDO:0700092), SGSM3-related Review for gene: SGSM3 was set to AMBER