| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.710 | CausalMutation | CLINVAR | TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. | 29410950 | 2018 |
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|
T | 0.710 | CausalMutation | CLINVAR | The more common and less severe PCH 2 phenotype is caused by homozygosity for the common missense mutation A307S, while the severe phenotype seen in type 4 and 5 is caused by compound heterozygosity of the A307S mutation along with a nonsense or splice site mutation. | 27570394 | 2016 |
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|
T | 0.710 | CausalMutation | CLINVAR | Natural course of pontocerebellar hypoplasia type 2A. | 24886362 | 2014 |
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|
T | 0.710 | CausalMutation | CLINVAR | Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. | 23307886 | 2014 |
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|
T | 0.710 | CausalMutation | CLINVAR | Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. | 23177318 | 2013 |
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|
T | 0.710 | CausalMutation | CLINVAR | TSEN54 mutations cause pontocerebellar hypoplasia type 5. | 21368912 | 2011 |
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|
0.710 | GeneticVariation | BEFREE | We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype. | 20956791 | 2010 |
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|
T | 0.710 | CausalMutation | CLINVAR | Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? | 20803644 | 2010 |
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|
T | 0.710 | CausalMutation | CLINVAR | tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. | 18711368 | 2008 |
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|
T | 0.710 | GeneticVariation | CLINVAR |