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Ophthalmological ciliopathies v6.5 TOPORS Ida Ertmanska Phenotypes for gene: TOPORS were changed from Ciliopathies to Joubert syndrome, MONDO:0018772
Ophthalmological ciliopathies v6.4 TOPORS Ida Ertmanska Publications for gene: TOPORS were set to
Ophthalmological ciliopathies v6.3 TOPORS Ida Ertmanska Mode of inheritance for gene: TOPORS was changed from to BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v6.2 TOPORS Ida Ertmanska Tag founder-effect tag was added to gene: TOPORS.
Ophthalmological ciliopathies v6.2 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.
Ophthalmological ciliopathies v6.2 TOPORS Ida Ertmanska reviewed gene: TOPORS: Rating: RED; Mode of pathogenicity: None; Publications: 34132027, 37227088, 40358237; Phenotypes: Joubert syndrome, MONDO:0018772; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v0.1 TOPORS Ivone Leong gene: TOPORS was added
gene: TOPORS was added to Ophthalmological ciliopathies. Sources: Emory Genetics Laboratory,Expert Review Red
Mode of inheritance for gene: TOPORS was set to
Phenotypes for gene: TOPORS were set to Ciliopathies