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| Mitochondrial disease v0.1033 | NARS2 | Sangavi Sivagnanasundram edited their review of gene: NARS2: Changed phenotypes: Leigh syndrome MONDO:0009723, combined oxidative phosphorylation defect type 24 MONDO:0014547 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1033 | NARS2 | Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by ClinGen on 19/12/2019 however that was based lack of reported cases at the time of curation.; to: Classified as LIMITED by ClinGen on 19/12/2019 however, that is based on the lack of reported cases at the time of curation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1033 | NARS2 | Sangavi Sivagnanasundram reviewed gene: NARS2: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005563; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.708 | NARS2 | Zornitza Stark Marked gene: NARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.708 | NARS2 | Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.708 | NARS2 | Zornitza Stark Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24 - MIM#616239; Deafness, autosomal recessive 94 - MIM#618434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.707 | NARS2 | Zornitza Stark Publications for gene: NARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.706 | NARS2 | Zornitza Stark Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.705 | NARS2 | Krithika Murali reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | NARS2 |
Zornitza Stark gene: NARS2 was added gene: NARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NARS2 was set to Unknown |
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