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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)
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