Activity
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10 actions
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| Likely inborn error of metabolism v8.8 | COX4I1 | Achchuthan Shanmugasundram Phenotypes for gene: COX4I1 were changed from Mitochondrial Diseases; No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.7 | COX4I1 | Achchuthan Shanmugasundram Publications for gene: COX4I1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.7 | COX4I1 | Achchuthan Shanmugasundram Mode of inheritance for gene: COX4I1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.6 | COX4I1 | Achchuthan Shanmugasundram Classified gene: COX4I1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.6 | COX4I1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should also be rated green on this panel as this has already been rated green on R356 Mitochondrial disorder with complex IV deficiency panel (https://panelapp.genomicsengland.co.uk/panels/537/gene/COX4I1/) and is being currently recommended for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX4I1/). There are two unrelated cases and functional evidence in support of the association of this gene with Mitochondrial complex IV deficiency. |
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| Likely inborn error of metabolism v8.6 | COX4I1 | Achchuthan Shanmugasundram Gene: cox4i1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.5 | COX4I1 | Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: COX4I1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.5 | COX4I1 |
Achchuthan Shanmugasundram changed review comment from: This gene should also be rated green on this panel as this has already been rated green on R356 Mitochondrial disorder with complex IV deficiency panel (https://panelapp.genomicsengland.co.uk/panels/537/gene/COX4I1/) and is being currently recommended for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/COX4I1/). PMID:28766551 reported a 5-year-old girl identified with homozygous COX4I1 variant (p.(Lys101_Thr102delinsAsnSer)) and mitochondrial complex IV deficiency, which segregated with the disorder in the family. PMID:31290619 reported two brothers of Iraqi descent, identified with a homozygous missense variant in the COX4I1 gene (p.(Pro152Thr)) and mitochondrial complex IV deficiency, which also segregated with the disorder in the family. There is also functional evidence available from the above publications. This gene is also associated with relevant phenotypes in OMIM (MIM #619060).; to: PMID:28766551 reported a 5-year-old girl identified with homozygous COX4I1 variant (p.(Lys101_Thr102delinsAsnSer)) and mitochondrial complex IV deficiency, which segregated with the disorder in the family. PMID:31290619 reported two brothers of Iraqi descent, identified with a homozygous missense variant in the COX4I1 gene (p.(Pro152Thr)) and mitochondrial complex IV deficiency, which also segregated with the disorder in the family. There is also functional evidence available from the above publications. This gene is also associated with relevant phenotypes in OMIM (MIM #619060). |
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| Likely inborn error of metabolism v8.5 | COX4I1 | Achchuthan Shanmugasundram reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28766551, 31290619, 33578848; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | COX4I1 |
Ellen McDonagh gene: COX4I1 was added gene: COX4I1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: COX4I1 was set to Unknown Phenotypes for gene: COX4I1 were set to Mitochondrial Diseases; No OMIM phenotype |
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