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Likely inborn error of metabolism - targeted testing not possible v3.6 | NSUN3 | Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NSUN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.6 | NSUN3 | Achchuthan Shanmugasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v3.5 | NSUN3 |
Achchuthan Shanmugasundram Source NHS GMS was added to NSUN3. Source Expert Review Green was added to NSUN3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v2.288 | NSUN3 | Arina Puzriakova Phenotypes for gene: NSUN3 were changed from Combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, OMIM:619012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.287 | NSUN3 | Arina Puzriakova Publications for gene: NSUN3 were set to 27356879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.265 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v2.264 | NSUN3 | Arina Puzriakova Tag Q3_22_rating tag was added to gene: NSUN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.406 | NSUN3 | Catherine Snow changed review comment from: PMID: 27356879 - reports on a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency.; to: PMID: 27356879 - reports on a compound heterozygous variant resulting in a loss-of-function mutation in NSUN3 in a patient presenting with combined mitochondrial respiratory chain complex deficiency. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.406 | NSUN3 | Catherine Snow commented on gene: NSUN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.406 | NSUN3 |
Catherine Snow gene: NSUN3 was added gene: NSUN3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list 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 Combined mitochondrial respiratory chain complex deficiency |