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DDG2P

Gene: SGSM3

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease SGSM3-related intellectual disability is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 37833060).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SGSM3-related intellectual disability

Publications

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • SGSM3-related intellectual disability
OMIM
610440
Clinvar variants
Variants in SGSM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SGSM3 was added gene: SGSM3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype 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 SGSM3-related intellectual disability