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  3. SGSM3
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Intellectual disability syndromic and non-syndromic

Gene: SGSM3

Green List (high evidence)
SGSM3 (small G protein signaling modulator 3)
EnsemblGeneIds (GRCh38): ENSG00000100359
EnsemblGeneIds (GRCh37): ENSG00000100359
OMIM: 610440, Gene2Phenotype
SGSM3 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Additional cases - PMID: 39390489
Two siblings reported from consanguineous Turkish parents. Both siblings affected with neurodevelopmental phenotype including short stature and ID.
NM_015705.6: c.1576C>T: p.(Arg526Ter) - variant is present in gnomAD v4.1 (rare enough for AR condition - NFE AF 0.002%)
Created: 6 Nov 2024, 11:03 p.m. | Last Modified: 6 Nov 2024, 11:03 p.m.
Panel Version: 0.6627

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Nov 2024, 11:03 p.m.
Last Modified: 6 Nov 2024, 11:03 p.m.
Panel version: 0.6627

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

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 prevalent phenotypes 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: 2 Nov 2023, 1:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 2 Nov 2023, 1:34 a.m.

Panel version: 0.5602

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), SGSM3-related
Tags
founder
OMIM
610440
Clinvar variants
Variants in SGSM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGSM3 were set to PMID: 37833060

8 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sgsm3 has been classified as Green List (High Evidence).

2 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

2 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

2 Nov 2023, Gel status: 0

Added Tag

Ain Roesley (Victorian Clinical Genetics Services)

Tag founder tag was added to gene: SGSM3.

2 Nov 2023, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

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