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| Early-onset Parkinson disease v0.28 | PODXL |
Bryony Thompson gene: PODXL was added gene: PODXL was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PODXL was set to Unknown Publications for gene: PODXL were set to 26864383; 20706633 Phenotypes for gene: PODXL were set to juvenile-onset Parkinson disease Review for gene: PODXL was set to AMBER Added comment: Single consanguineous Indian family reported with a homozygous loss of function variant. A Podxl null mouse model has aberrant neurite length and number of branching points, and also evidence of impaired synaptogenesis. Subsequent screening in 280 Parkinson disease patients with various ages of onset identified 3 heterozygous missense variants (P429T, S373N, and R294Q; all numbering according to isoform 2), absent in gnomAD. Transfection of the missense variants into PC12 cells resulted in variable aberrant neurite length and/or branching, suggesting a functional effect. However, there is more evidence supporting the association of monoallelic and biallelic variants with FSGS (see Proteinuria panel). There was no renal symptoms present in the reported family, which had renal function tests. Sources: Literature |
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