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| Paroxysmal Dyskinesia v0.106 | JPH3 | Zornitza Stark Marked gene: JPH3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.106 | JPH3 | Zornitza Stark Gene: jph3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.106 | JPH3 | Zornitza Stark Mode of pathogenicity for gene: JPH3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.105 | JPH3 | Zornitza Stark Classified gene: JPH3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.105 | JPH3 | Zornitza Stark Gene: jph3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.104 | JPH3 |
Zornitza Stark changed review comment from: Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder.; to: Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder. Note STRs in this gene cause a separate disorder. |
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| Paroxysmal Dyskinesia v0.104 | JPH3 | Zornitza Stark reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: None; Publications: 36273396; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, JPH3-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.104 | JPH3 |
SHEKEEB MOHAMMAD gene: JPH3 was added gene: JPH3 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: JPH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: JPH3 were set to PMID: 36273396 Phenotypes for gene: JPH3 were set to paroxysmal dystonia, intellectual disability Penetrance for gene: JPH3 were set to unknown Mode of pathogenicity for gene: JPH3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: JPH3 was set to GREEN Added comment: Sources: Literature |
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