1. Genes and Genomic Entities
  2. GDI1

GDI1

GDP dissociation inhibitor 1
OMIM: 300104, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red GDI1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 48
  • MENTAL RETARDATION X-LINKED TYPE 41
Red GDI1 in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • MENTAL RETARDATION X-LINKED TYPE 48 300849
    • MENTAL RETARDATION X-LINKED TYPE 41 300849
    Green GDI1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Mental retardation, X-linked 41, 300849
    • MENTAL RETARDATION X-LINKED TYPE 41 (MRX41)