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| Dystonia - complex v0.271 | PDGFB |
Sangavi Sivagnanasundram changed review comment from: Disease characterised by calcifications predominantly affecting the basal ganglia of the brain however can affect other areas of the brain as well. Affected individuals report abnormal motor symptoms and psychiatric manifestations. PMID: 36690225 - 24yr with brain calcification and neuropsychiatric symptoms. The affected individual also presented with chorea and dystonia. A novel homozygous Ser305del variant was identified. PMID: 34736156 - three unrelated individuals reported across different articles with brain calcification shown on brain imaging along with paroxysmal dystonia.; to: Disease characterised by calcifications predominantly affecting the basal ganglia of the brain however can affect other areas of the brain as well. Affected individuals report abnormal motor symptoms and psychiatric manifestations. PMID: 36690225 - 24yr with brain calcification and neuropsychiatric symptoms. The affected individual also presented with chorea and dystonia. A novel homozygous Ser305del variant was identified. PMID: 34736156 - three unrelated individuals reported across different publications with brain calcification shown on brain imaging along with paroxysmal dystonia. |
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| Dystonia - complex v0.270 | PDGFB | Sangavi Sivagnanasundram reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36690225, 34736156; Phenotypes: Primary familial brain calcifications, basal ganglia calcification, idiopathic, 5 MONDO:0014204; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia - complex v0.0 | PDGFB |
Bryony Thompson gene: PDGFB was added gene: PDGFB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483 |
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