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  3. PLEKHG1
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Intellectual disability

Gene: PLEKHG1

Red List (low evidence)
PLEKHG1 (pleckstrin homology and RhoGEF domain containing G1)
EnsemblGeneIds (GRCh38): ENSG00000120278
EnsemblGeneIds (GRCh37): ENSG00000120278
PLEKHG1 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment on publications: PMID: 39202455 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques
Created: 26 Feb 2025, 11:14 a.m. | Last Modified: 26 Feb 2025, 11:14 a.m.
Panel Version: 8.105
PMID: 39202455 reports a de novo heterozygous PLEKHG1 variant (NM_001029884.3 c.370A>G, p.Thr124Ala) in a child with spastic diplegia and psychomotor developmental delay. The child also had cystic fibrosis, due causative CFTR variants inherited from the parents.
A genome-wide association meta-analysis has previously associated the PLEKHG1 locus with white matter hyperintensities (PMID: 30659137).
Sources: Literature
Created: 26 Feb 2025, 11:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic diplegia and psychomotor developmental delay

Publications

Created: 26 Feb 2025, 11:12 a.m.

Panel version: 8.104

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Spastic diplegia and psychomotor developmental delay
Clinvar variants
Variants in PLEKHG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Feb 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PLEKHG1 were set to 39202455; 30659137

26 Feb 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: PLEKHG1 was added gene: PLEKHG1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PLEKHG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PLEKHG1 were set to 39202455; 30659137 Phenotypes for gene: PLEKHG1 were set to Spastic diplegia and psychomotor developmental delay Review for gene: PLEKHG1 was set to RED