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| Mitochondrial disorders v3.6 | NSUN3 | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.6 | NSUN3 | Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.5 | NSUN3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorders v2.150 | NSUN3 | Arina Puzriakova Phenotypes for gene: NSUN3 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 48, OMIM:619012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.149 | NSUN3 | Arina Puzriakova Publications for gene: NSUN3 were set to 27356879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.123 | NSUN3 | Arina Puzriakova reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, OMIM: 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.122 | NSUN3 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: NSUN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.8 | NSUN3 | Zornitza Stark reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.412 | NSUN3 | Sarah Leigh reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.411 | NSUN3 |
Sarah Leigh gene: NSUN3 was added gene: NSUN3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN3 were set to 27356879 Phenotypes for gene: NSUN3 were set to No OMIM phenotype |
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