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| Childhood onset dystonia, chorea or related movement disorder v3.48 | PDGFB | Sarah Leigh edited their review of gene: PDGFB: Added comment: PDGFB variants are associated with Basal ganglia calcification, idiopathic, 5 (OMIM:615483). No phenotype has been associated with PDGFB in Gen2Phen. Although the age of onset for OMIM:615483 is in adulthood, PMID: 23913003 reports four unrelated cases where the age of onset is listed as childhood or 10 years of age.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.48 | PDGFB | Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, OMIM:615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483; basal ganglia calcification, idiopathic, 5, MONDO:0014204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.47 | PDGFB | Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140; 35747618 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.46 | PDGFB | Sarah Leigh Publications for gene: PDGFB were set to 26129893; 23913003; 30952898; 30609140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.45 | PDGFB | Sarah Leigh Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5, 615483 to Basal ganglia calcification, idiopathic, 5, OMIM:615483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.44 | PDGFB | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.44 | PDGFB | Sarah Leigh Added comment: Comment on publications: ;23913003;30952898;30609140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v3.44 | PDGFB | Sarah Leigh Publications for gene: PDGFB were set to 26129893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.49 | PDGFB | Zornitza Stark reviewed gene: PDGFB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 4 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.114 | PDGFB | Louise Daugherty Phenotypes for gene: PDGFB were changed from Basal ganglia calcification, idiopathic, 5 615483 to Basal ganglia calcification, idiopathic, 5, 615483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | PDGFB |
Ellen McDonagh Source PanelApp was added to PDGFB. Mode of inheritance for gene PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Basal ganglia calcification, idiopathic, 5 615483 for gene: PDGFB Publications for gene PDGFB were changed from to 26129893 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | PDGFB |
Ellen McDonagh gene: PDGFB was added gene: PDGFB was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: PDGFB was set to |
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