Activity
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13 actions
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| Possible mitochondrial disorder - nuclear genes v4.17 | COX14 | Ida Ertmanska reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.16 | COX14 |
Ida Ertmanska Tag Q2_25_expert_review was removed from gene: COX14. Tag Q2_25_ demote_amber was removed from gene: COX14. |
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| Possible mitochondrial disorder - nuclear genes v4.16 | COX14 |
Ida Ertmanska Source Expert Review Amber was added to COX14. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Possible mitochondrial disorder - nuclear genes v4.6 | COX14 | Achchuthan Shanmugasundram Phenotypes for gene: COX14 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.5 | COX14 | Achchuthan Shanmugasundram Publications for gene: COX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.4 | COX14 | Achchuthan Shanmugasundram Classified gene: COX14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.4 | COX14 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene has also been demoted from green to amber on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX14/) in response to review from Zornitza Stark (Australian Genomics), and in agreement with the NHS Genomic Medicine Service. Hence, this gene is recommended for demotion on this panel and opinion is being sought from the NHS mitochondrial specialist teams on this. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.4 | COX14 | Achchuthan Shanmugasundram Gene: cox14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v4.3 | COX14 |
Achchuthan Shanmugasundram Tag Q2_25_expert_review tag was added to gene: COX14. Tag Q2_25_ demote_amber tag was added to gene: COX14. |
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| Possible mitochondrial disorder - nuclear genes v4.3 | COX14 |
Achchuthan Shanmugasundram changed review comment from: PMID:22243966 reported one family with a homozygous missense COX14 (C12orf62) variant presenting with severe congenital lactic acidosis and dysmorphic features. There is also functional evidence available in support of the association. However, there is no additional evidence associating this gene to disease in humans. Hence, this gene should be rated amber with the available evidence. This gene is rated amber on the Mitochondrial disease panel in PanelApp Australia (https://panelapp-aus.org/panels/203/gene/COX14/). It is tentatively associated with a disease phenotype in OMIM (MIM #619053) and has limited rating on the DD panel in Gene2Phenotype database.; to: PMID:22243966 reported one family with a homozygous missense COX14 (C12orf62) variant presenting with severe congenital lactic acidosis and dysmorphic features. There is also functional evidence available in support of the association. However, there is no additional evidence associating this gene to disease in humans. Hence, this gene should be rated amber with the available evidence. This gene is rated amber on the Mitochondrial disease panel in PanelApp Australia (https://panelapp-aus.org/panels/203/gene/COX14/). It is tentatively associated with a disease phenotype in OMIM (MIM #619053) and has limited rating on the DD panel in Gene2Phenotype database. |
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| Possible mitochondrial disorder - nuclear genes v4.3 | COX14 | Achchuthan Shanmugasundram reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 10, OMIM:619053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | COX14 | Ivone Leong reviewed gene: COX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | COX14 |
Ivone Leong gene: COX14 was added gene: COX14 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, 220110 |
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