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| Adult onset dystonia, chorea or related movement disorder v0.88 | PCDH12 | Louise Daugherty edited their review of gene: PCDH12: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | PCDH12 | Louise Daugherty reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | PCDH12 | Emily Jones reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: ; Publications: 30459466; Phenotypes: microcephaly, epilepsy, midbrain abnormalities, intellectual disability, hypothalamic abnormalities, perithalamic hyperechogenicity, periventricular hyperechogenicity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | PCDH12 |
Louise Daugherty Added phenotypes intellectual disability; Microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; hypothalamic abnormalities; epilepsy; periventricular hyperechogenicity for gene: PCDH12 Publications for gene PCDH12 were changed from 27164683 to 30459466 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | PCDH12 | Louise Daugherty Source NHS GMS was added to PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | PCDH12 | Louise Daugherty Source South West GLH was added to PCDH12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | PCDH12 |
Ellen McDonagh gene: PCDH12 was added gene: PCDH12 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 27164683 Phenotypes for gene: PCDH12 were set to microcephaly; epilepsy; midbrain abnormalities; intellectual disability; hypothalamic abnormalities; perithalamic hyperechogenicity; periventricular hyperechogenicity |
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