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| Optic neuropathy v3.7 | NDUFA12 | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.7 | NDUFA12 | Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v3.6 | NDUFA12 |
Achchuthan Shanmugasundram 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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| Optic neuropathy v2.73 | NDUFA12 | Arina Puzriakova Entity copied from Childhood onset dystonia or chorea or related movement disorder v1.251 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v2.73 | NDUFA12 |
Arina Puzriakova gene: NDUFA12 was added gene: NDUFA12 was added to Optic neuropathy. Sources: Expert Review Amber,PanelApp,South West GLH Q3_22_rating tags were added to gene: NDUFA12. Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 21617257; 33715266; 35141356 Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 |
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