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| Adult onset dystonia, chorea or related movement disorder v0.88 | SLC41A1 | Louise Daugherty edited their review of gene: SLC41A1: 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 | SLC41A1 | Louise Daugherty reviewed gene: SLC41A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | SLC41A1 | Emily Jones reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: ; Publications: 24661466, 27612022, 26308152, 21812739, 20683486; Phenotypes: Parkinson disease (Yan (2011) Int J Neurosci 121,632); Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | SLC41A1 |
Louise Daugherty Added phenotypes Parkinson disease (Yan (2011) Int J Neurosci 121,632) for gene: SLC41A1 Publications for gene SLC41A1 were changed from 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients to 24661466; 26308152; 21812739; 20683486; 27612022 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | SLC41A1 | Louise Daugherty Source NHS GMS was added to SLC41A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | SLC41A1 | Louise Daugherty Source South West GLH was added to SLC41A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | SLC41A1 |
Ellen McDonagh gene: SLC41A1 was added gene: SLC41A1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SLC41A1 was set to Publications for gene: SLC41A1 were set to 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632) |
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