1. Genes and Genomic Entities
  2. SGSM3

SGSM3

small G protein signaling modulator 3
OMIM: 610440, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red SGSM3 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • SGSM3-related intellectual disability
    Amber SGSM3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • founder-effect