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| Ataxia v2.131 | PAK1 |
Sangavi Sivagnanasundram gene: PAK1 was added gene: PAK1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAK1 were set to 30290153 Phenotypes for gene: PAK1 were set to intellectual developmental disorder with macrocephaly, seizures, and speech delay, MONDO:0032568 Mode of pathogenicity for gene: PAK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: PAK1 was set to GREEN Added comment: PMID 30290153 reports 2 individuals from 2 families with de novo heterozygous PAK1 missense variants presenting with developmental delay, macrocephaly, seizures and ataxic gait. Patient fibroblast assays show gain‑of‑function effects (increased JNK/AKT phosphorylation, reduced dimerisation, enhanced filopodia) that are rescued by the PAK1 inhibitor FRAX486. Ataxia is a prominent feature of this condition. Sources: Literature |
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