Activity
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11 actions
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| Likely inborn error of metabolism v8.21 | CYCS | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: CYCS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.21 | CYCS |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are sufficient unrelated cases available to support a gene-disease association for CYCS. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation. In vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain. This gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/CYCS/) and can therefore be promoted to green rating in the next GMS update.; to: Comment on list classification: There are sufficient unrelated cases available to support a gene-disease association for CYCS. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation. In vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain. This gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/CYCS/) and can therefore be promoted to green rating in this panel in the next GMS update. |
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| Likely inborn error of metabolism v8.21 | CYCS |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are sufficient unrelated cases available to support a gene-disease association for CYCS. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation. In vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain. This gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/CYCS/). This gene can therefore be promoted to green rating in the next GMS update.; to: Comment on list classification: There are sufficient unrelated cases available to support a gene-disease association for CYCS. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation. In vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain. This gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/CYCS/) and can therefore be promoted to green rating in the next GMS update. |
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| Likely inborn error of metabolism v8.21 | CYCS | Achchuthan Shanmugasundram Classified gene: CYCS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.21 | CYCS |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient unrelated cases available to support a gene-disease association for CYCS. CYCS is located in the mitochondria and is involved in the electron transport system that functions in oxidative phosphorylation. In vitro studies of patient variants have shown functional defects in the mitochondrial respiratory chain. This gene has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/CYCS/). This gene can therefore be promoted to green rating in the next GMS update. |
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| Likely inborn error of metabolism v8.21 | CYCS | Achchuthan Shanmugasundram Gene: cycs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.20 | CYCS | Achchuthan Shanmugasundram Publications for gene: CYCS were set to 24326104; PMID: 18345000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.19 | CYCS | Achchuthan Shanmugasundram reviewed gene: CYCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v4.133 | CYCS | Arina Puzriakova Phenotypes for gene: CYCS were changed from Thrombocytopenia 4, 612004 to Thrombocytopenia 4, OMIM:612004 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.425 | CYCS | Sarah Leigh reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | CYCS |
Ellen McDonagh gene: CYCS was added gene: CYCS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYCS were set to 24326104; PMID: 18345000 Phenotypes for gene: CYCS were set to Thrombocytopenia 4, 612004 |
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