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Intellectual disability syndromic and non-syndromic

Gene: GDI1

Green List (high evidence)

GDI1 (GDP dissociation inhibitor 1)
EnsemblGeneIds (GRCh38): ENSG00000203879
EnsemblGeneIds (GRCh37): ENSG00000203879
OMIM: 300104, Gene2Phenotype
GDI1 is in 5 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

ClinGen ID and Autism GCEP downgraded their classification from definitive to MODERATE on 27/04/2023 due to reported probands having a nonspecific phenotype and undergoing targeted testing on X-Linked genes only - https://search.clinicalgenome.org/CCID:004941
Created: 14 May 2024, 4:26 a.m. | Last Modified: 14 May 2024, 4:26 a.m.
Panel Version: 0.5821

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

Phenotypes
non-syndromic X-linked intellectual disability MONDO:0019181

Publications

  • https://search.clinicalgenome.org/CCID:004941

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families, with segregation across multiple generations
Created: 24 Jan 2022, 7:22 a.m. | Last Modified: 24 Jan 2022, 7:22 a.m.
Panel Version: 0.4458

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

Phenotypes
Intellectual developmental disorder, X-linked 41 MIM#300849

Publications

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
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked 41 MIM#300849
OMIM
300104
Clinvar variants
Variants in GDI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gdi1 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GDI1 were changed from to Intellectual developmental disorder, X-linked 41 MIM#300849

24 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GDI1 were set to

24 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GDI1 was added gene: GDI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GDI1 was set to Unknown