| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.2676 | NSUN3 | Zornitza Stark Publications for gene: NSUN3 were set to 27356879; 32488845 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2675 | NSUN3 | Zornitza Stark Classified gene: NSUN3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2675 | NSUN3 | Zornitza Stark Gene: nsun3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2667 | NSUN3 | Sangavi Sivagnanasundram changed review comment from: Four other unrelated families reported with biallelic variants and presented with optic neuropathy of varying severities and oxidative phosphorylation deficiency. All affected individuals presented with a range of other phenotypes including but not limited to ID/DD, cardiac abnormalities, skeletal abnormalities and hearing impairment. Two families (Family 1 and Family 3) show segregation evidence across affected individuals however consanguinity was noted.; to: Four other unrelated families reported with biallelic variants and presented with optic neuropathy of varying severities and oxidative phosphorylation deficiency. All affected individuals presented with a range of other phenotypes including but not limited to ID/DD, cardiac abnormalities, skeletal abnormalities and hearing impairment. Two families (Family 1 and Family 3) show segregation evidence across affected individuals - consanguinity was noted in both families. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2667 | NSUN3 | Sangavi Sivagnanasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40465263; Phenotypes: combined oxidative phosphorylation deficiency 48 MONDO:0033566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4528 | NSUN3 | Zornitza Stark Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4527 | NSUN3 | Zornitza Stark Publications for gene: NSUN3 were set to 27356879 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4526 | NSUN3 | Zornitza Stark edited their review of gene: NSUN3: Added comment: Second family reported with early-onset mitochondrial encephalomyopathy and seizures.; Changed publications: 27356879, 32488845; Changed phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1808 | NSUN3 | Zornitza Stark Marked gene: NSUN3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1808 | NSUN3 | Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1808 | NSUN3 | Zornitza Stark Classified gene: NSUN3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1808 | NSUN3 | Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.1807 | NSUN3 |
Zornitza Stark gene: NSUN3 was added gene: NSUN3 was added to Mendeliome. Sources: NHS GMS 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 Review for gene: NSUN3 was set to AMBER Added comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted. Sources: NHS GMS |
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