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| Mitochondrial disorders v3.6 | COX14 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Amber following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.6 | COX14 |
Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: COX14. Tag Q2_22_expert_review was removed from gene: COX14. |
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| Mitochondrial disorders v3.6 | COX14 | Achchuthan Shanmugasundram reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.5 | COX14 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to COX14. Source NHS GMS was added to COX14. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Mitochondrial disorders v2.105 | COX14 | Sarah Leigh changed review comment from: In response to Zornitza Stark's review, that only a single COX14 variant has been published in cases of Fatal Neonatal Lactic Acidosis (PMID:22243966), it would be beneficial to recieve confirmation from the NHS that COX14 is still used in standard diagnostic practice.; to: In response to Zornitza Stark's (Australian Genomics), review 18 Mar 2020: that only a single COX14 variant has been published in cases of Fatal Neonatal Lactic Acidosis (PMID:22243966), it would be beneficial to recieve confirmation from the NHS that COX14 is still used in standard diagnostic practice. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.104 | COX14 |
Sarah Leigh Tag Q2_21_rating was removed from gene: COX14. Tag Q2_22_rating tag was added to gene: COX14. |
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| Mitochondrial disorders v2.104 | COX14 | Sarah Leigh reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.104 | COX14 |
Sarah Leigh Tag Q2_21_rating tag was added to gene: COX14. Tag Q2_22_expert_review tag was added to gene: COX14. |
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| Mitochondrial disorders v2.104 | COX14 | Sarah Leigh Publications for gene: COX14 were set to PMID: 22243966 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | COX14 | Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||