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Adult onset dystonia, chorea or related movement disorder v0.101 NDUFA10 Louise Daugherty Source Expert Review Red was added to NDUFA10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.100 NDUFA10 Louise Daugherty commented on gene: NDUFA10: Changed rating from Green to Red - As agreed by GMS Neurology specialist test group. Classified Red due to their age of onset or do not fit the phenotype.
Adult onset dystonia, chorea or related movement disorder v0.99 NDUFA10 Louise Daugherty commented on gene: NDUFA10: Uploaded an updated Review and rating from a file sent by Robyn Labrum (London North GLH) after webex call 26th July : R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xlsx. To be discussed at next GMS Neurology specialist test group webex September 2019
Adult onset dystonia, chorea or related movement disorder v0.98 NDUFA10 James Polke commented on gene: NDUFA10: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 : confirming Red review: Mitochondrial complex I deficiency, nuclear type 22 - onset in infancy
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFA10 Louise Daugherty reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFA10 James Polke reviewed gene: NDUFA10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFA10 Louise Daugherty Source NHS GMS was added to NDUFA10.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFA10 Louise Daugherty Source London North GLH was added to NDUFA10.
Adult onset dystonia, chorea or related movement disorder v0.2 NDUFA10 Ellen McDonagh gene: NDUFA10 was added
gene: NDUFA10 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA10 were set to 21150889; 28247337; 26741492
Phenotypes for gene: NDUFA10 were set to Leigh syndrome