Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

This Panel is marked as Internal

Intellectual_disability
Gene: GDI1

GDI1 (GDP dissociation inhibitor 1)
EnsemblGeneIds (GRCh38): ENSG00000203879
EnsemblGeneIds (GRCh37): ENSG00000203879
OMIM: 300104, Gene2Phenotype
GDI1 is in 3 panels

0 reviews

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Known gene (Grozeva et al, 2015)
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Radboud University Medical Center, Nijmegen

Phenotypes

Mental retardation, X-linked 41, 300849
Intellectual disability

OMIM

Clinvar variants

Variants in GDI1

Penetrance

Complete

Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

GDI1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GDI1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GDI1 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene GDI1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GDI1 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GDI1 was added to Intellectual_disabilitypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen