TMTC3, transmembrane O-mannosyltransferase targeting cadherins 3, 160418
N. diseases: 57; N. variants: 11
Source: ALL
| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.800 | GeneticVariation | UNIPROT | Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. | 26477546 | 2015 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. | 26166481 | 2015 | |||||||
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A | 0.800 | CausalMutation | CLINVAR | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. | 26092869 | 2015 | ||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. | 22425360 | 2012 | |||||||
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0.800 | GeneticVariation | UNIPROT | The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. | 16682973 | 2006 | |||||||
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0.800 | GeneticVariation | UNIPROT | Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. | 16682970 | 2006 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. | 26092869 | 2015 | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. | 26092869 | 2015 | ||||||
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0.700 | GeneticVariation | UNIPROT | Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. | 20683928 | 2010 | |||||||
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T | 0.700 | GeneticVariation | CLINVAR | CEP290, a gene with many faces: mutation overview and presentation of CEP290base. | 20690115 | 2010 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | CEP290, a gene with many faces: mutation overview and presentation of CEP290base. | 20690115 | 2010 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | CEP290, a gene with many faces: mutation overview and presentation of CEP290base. | 20690115 | 2010 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. | 16682970 | 2006 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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CTT | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding transmembrane and tetratricopeptide repeat containing 3, in four siblings with nocturnal seizures and ID. | 28973161 | 2017 | |||||||
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0.010 | GeneticVariation | BEFREE | Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding transmembrane and tetratricopeptide repeat containing 3, in four siblings with nocturnal seizures and ID. | 28973161 | 2017 |