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| Skeletal ciliopathies v7.5 | TOPORS | Ida Ertmanska commented on gene: TOPORS: Comment on list classification: There are 4 probands reported in literature with Joubert syndrome and the same homozygous missense variant in TOPORS (p.Pro10Gln). All 4 individuals are of Dominican ancestry. Hence, this is likely a founder allele, and the gene should be rated Red, until more evidence emerges for the association. A founder-efffect tag was added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v7.5 | TOPORS |
Ida Ertmanska gene: TOPORS was added gene: TOPORS was added to Skeletal ciliopathies. Sources: Literature founder-effect tags were added to gene: TOPORS. Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOPORS were set to 34132027; 37227088; 40358237 Phenotypes for gene: TOPORS were set to Joubert syndrome, MONDO:0018772 Review for gene: TOPORS was set to RED Added comment: PMID: 40358237 Lob & Brown, 2025 Report of a 12-month-old Dominican boy with a Dandy-Walker malformation (DWM, anomaly of cerebellar development), trigeminal neuralgia, molar tooth sign, mesoaxial polydactyly of hands and feet, hypotonia, and developmental delay. He was diagnosed with OFDS VI / Joubert syndrome. He was homozygous for TOPORS: c.29 C>A, p.Pro10Gln. PMID: 37227088 Strong et al., 2023 Report of a proband of Dominican ancestry with Joubert syndrome. Exome seq showed he was homozygous for the c.29C>A, p.(Pro10Gln) variant in TOPORS. PMID: 34132027 Strong et al., 2021 Study described two unrelated Dominican probands with oral cavity malformations, dysmorphic features, postaxial polydactyly, multiple lingual hamartomas, and dysmorphic features. Molar tooth sign also seen in Patient 2 - indicative of Joubert syndrome. Both patients were found to be homozygous for an identical TOPORS missense variant, c.29 C>A; (p.Pro10Gln). NO haplotype analysis. Variant may represent a Dominican Republic founder allele. 31 hets and no homozygotes reported in gnomAD v4.1.2. (MAF = 0.0001000, Admixed American pop). TOPORS is not yet associated with a recessive disease entity in OMIM (heterozygous TOPORS variants between residues 807-867 are known to cause Retinitis pigmentosa 31) - OMIM accessed 3rd Nov 2026. Sources: Literature |
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