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| Ataxia v2.28 | CLP1 |
Sangavi Sivagnanasundram gene: CLP1 was added gene: CLP1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to 38622473; 34584079 Phenotypes for gene: CLP1 were set to pontocerebellar hypoplasia type 10, MONDO:0014349 Review for gene: CLP1 was set to AMBER Added comment: PMID 38622473 reports 14 of 15 Turkish individuals with reported pontocerebellar hypoplasia and ataxia as a presenting phenotype however they all carry the same homozygous variant - c.419G>A p.Arg140His - FAF 0.002% in gnomAD v4.1. The authors speculate that this is a founder variant in the Turkish population. PMID 34584079 describes functional assays conducted on patient fibroblast cell lines that show a loss-of-function effect compared to the WT. Sources: Literature |
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