| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disorders v6.4 | OXCT1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: OXCT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.4 | OXCT1 | Sarah Leigh edited their review of gene: OXCT1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.3 | OXCT1 | Sarah Leigh edited their review of gene: OXCT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v6.2 | OXCT1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to OXCT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Mitochondrial disorders v4.73 | OXCT1 | Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: OXCT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.73 | OXCT1 | Achchuthan Shanmugasundram Classified gene: OXCT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.73 | OXCT1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available (at least three unrelated cases and functional evidence) in support of the association of this gene to Succinyl CoA:3-oxoacid CoA transferase deficiency (a mitochondrial enzyme). In addition, this gene has been associated with this phenotype in both OMIM (MIM #245050) and Gene2Phenotype ('definitive' rating in the DD panel. This gene can therefore be promoted to green rating in the next GMS update. |
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| Mitochondrial disorders v4.73 | OXCT1 | Achchuthan Shanmugasundram Gene: oxct1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.72 | OXCT1 | Achchuthan Shanmugasundram Publications for gene: OXCT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v4.71 | OXCT1 | Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8751852, 10964512, 11757586, 23420214, 25778941; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, OMIM:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | OXCT1 | Zornitza Stark reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 10964512, 8751852, 23420214, 25778941; Phenotypes: Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM#245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.412 | OXCT1 | Sarah Leigh reviewed gene: OXCT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.411 | OXCT1 |
Sarah Leigh gene: OXCT1 was added gene: OXCT1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 |
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