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| Adult onset neurodegenerative disorder v7.14 | SGIP1 | Arina Puzriakova Added comment: Comment on publications: PMID:39332416 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.14 | SGIP1 | Arina Puzriakova Publications for gene: SGIP1 were set to 39332416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.13 | SGIP1 |
Arina Puzriakova gene: SGIP1 was added gene: SGIP1 was added to Adult onset neurodegenerative disorder. Sources: Literature Mode of inheritance for gene: SGIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGIP1 were set to 39332416 Phenotypes for gene: SGIP1 were set to Early-onset parkinsonism Added comment: PMID: 39332416 (2024) - consanguineous Arab family with two affected sisters who manifested young-onset parkinsonism (onset at age 19 and 22). Other features include intellectual/cognitive dysfunction, behavioral problems, and seizures (in one individual). WES revealed a homozygous missense variant (c.2080T>G (p.W694G)) in the SGIP1 gene. Functional studies in Drosophila demonstrated movement defects, synaptic transmission dysfunction, and neurodegeneration, including dopaminergic synapse loss. Rating Red as only a single family has been reported to date. Sources: Literature |
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