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| Malformations of cortical development v7.3 | DLGAP4 | Arina Puzriakova Added comment: Comment on publications: PMID:35585091 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.3 | DLGAP4 | Arina Puzriakova Publications for gene: DLGAP4 were set to 35585091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malformations of cortical development v7.2 | DLGAP4 |
Arina Puzriakova gene: DLGAP4 was added gene: DLGAP4 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: DLGAP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLGAP4 were set to 35585091 Review for gene: DLGAP4 was set to RED Added comment: PMID: 35585091 (2022) - patient with a de novo variant in DLGAP4 gene was identified (family P616; c.2714_2715insCAGCTGG, N905Qfs). Clinical presentation included extensive subependymal heterotopia, cerebral paralysis, GDD (without ID), spastic diplegia. In an additional family (P477), heterozygous variants were also observed in twins - a paternally inherited missense variant in DLGAP4 (c.2893T>G, p.Ser965Ala) and maternally inherited missense variant in DLGAP1 (c.1397A>G, p.Asp466Gly). The twins presented with DD and parieto-occipital pachygyria. Functional studies show that DLGAP4 plays a role in maintaining the progenitor pool, regulating neurogenesis and neuronal migration. Overall more evidence is required before drawing conclusions about the role of DLGAP4 in human disease. Sources: Literature |
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