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| Intellectual disability v8.105 | PLEKHG1 | Sarah Leigh Added comment: 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.105 | PLEKHG1 | Sarah Leigh Publications for gene: PLEKHG1 were set to 39202455; 30659137 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.104 | PLEKHG1 |
Sarah Leigh 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 Added comment: 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 |
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