Activity
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| Adult onset dystonia, chorea or related movement disorder v0.88 | NDUFS3 | Louise Daugherty edited their review of gene: NDUFS3: 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 | NDUFS3 | Louise Daugherty reviewed gene: NDUFS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | NDUFS3 | Emily Jones reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: ; Publications: 14729820, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | NDUFS3 |
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3 Publications for gene NDUFS3 were changed from to 14729820; 19167255 |
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| Adult onset dystonia, chorea or related movement disorder v0.47 | NDUFS3 | Louise Daugherty Source NHS GMS was added to NDUFS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | NDUFS3 | Louise Daugherty Source South West GLH was added to NDUFS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | NDUFS3 |
Ellen McDonagh gene: NDUFS3 was added gene: NDUFS3 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency 256000 |
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