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| Childhood onset dystonia, chorea or related movement disorder v2.10 | NDUFA12 | Eleanor Williams Tag Q3_22_rating was removed from gene: NDUFA12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v2.10 | NDUFA12 | Eleanor Williams reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v2.8 | NDUFA12 |
Eleanor Williams Source Expert Review Green was added to NDUFA12. Source NHS GMS was added to NDUFA12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset dystonia, chorea or related movement disorder v1.251 | NDUFA12 | Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from Leigh syndrome due to mitochondrial complex 1 deficiency 256000; ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.250 | NDUFA12 | Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.249 | NDUFA12 | Arina Puzriakova Classified gene: NDUFA12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.249 | NDUFA12 | Arina Puzriakova Gene: ndufa12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.248 | NDUFA12 | Arina Puzriakova reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.248 | NDUFA12 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA1 |
Ellen McDonagh Source PanelApp was added to NDUFA1. Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Mitochondrial complex I deficiency 252010 for gene: NDUFA1 Publications for gene NDUFA1 were changed from to 28247337; 17262856; 21596602; 27604308; 19185523 |
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| Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA12 |
Ellen McDonagh Source PanelApp was added to NDUFA12. Added phenotypes Leigh syndrome due to mitochondrial complex 1 deficiency 256000 for gene: NDUFA12 Publications for gene NDUFA12 were changed from to 21617257 |
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| Childhood onset dystonia, chorea or related movement disorder v0.7 | NDUFA10 |
Ellen McDonagh Source PanelApp was added to NDUFA10. Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leigh syndrome 256000 for gene: NDUFA10 Publications for gene NDUFA10 were changed from to 28247337; 21150889; 26741492 |
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| Childhood onset dystonia, chorea or related movement disorder v0.1 | NDUFA12 |
Ellen McDonagh gene: NDUFA12 was added gene: NDUFA12 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244 |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA11 |
Ellen McDonagh gene: NDUFA11 was added gene: NDUFA11 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFA11 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA10 |
Ellen McDonagh gene: NDUFA10 was added gene: NDUFA10 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFA10 was set to |
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| Childhood onset dystonia, chorea or related movement disorder v0.0 | NDUFA1 |
Ellen McDonagh gene: NDUFA1 was added gene: NDUFA1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: NDUFA1 was set to |
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