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Childhood onset dystonia, chorea or related movement disorder v1.237 | NDUFA2 | Eleanor Williams Tag for-review was removed from gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.237 | NDUFA2 | Sarah Leigh commented on gene: NDUFA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.236 | NDUFA2 |
Eleanor Williams Source Expert Review Green was added to NDUFA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood onset dystonia, chorea or related movement disorder v1.6 | NDUFA2 | Arina Puzriakova Classified gene: NDUFA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.6 | NDUFA2 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least three unrelated cases presenting a movement phenotype following a period of regression. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.6 | NDUFA2 | Arina Puzriakova Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova Tag for-review tag was added to gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova edited their review of gene: NDUFA2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova Classified gene: NDUFA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.5 | NDUFA2 | Arina Puzriakova Gene: ndufa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | NDUFA2 | Arina Puzriakova Tag watchlist was removed from gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | NDUFA2 | Arina Puzriakova Tag watchlist tag was added to gene: NDUFA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v1.4 | NDUFA2 | Arina Puzriakova reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 32154054; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA2 |
Ellen McDonagh Source PanelApp was added to NDUFA2. Publications for gene NDUFA2 were changed from to 18513682 |
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Childhood onset dystonia, chorea or related movement disorder v0.1 | NDUFA2 |
Ellen McDonagh Source South West GLH was added to NDUFA2. Mode of inheritance for gene NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Mitochondrial complex I deficiency, nuclear type 13 for gene: NDUFA2 |
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Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA2 |
Ellen McDonagh gene: NDUFA2 was added gene: NDUFA2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFA2 was set to |