Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Mitochondrial disorders v10.18 OGDH Achchuthan Shanmugasundram Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disorders v10.18 OGDH Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported with biallelic OGDH variants and functional evidence available in support of the association. OGDH is part of a multicomplex enzyme involved in the Kreb cycle and this gene is associated with mitochondrial disease with 'Definitive' rating by Mitochondrial Diseases GCEP in ClinGen.

However, expert review has been requested from NHSE as the recommendation for promotion to green rating has previously been disagreed by the NHSE suggesting that this gene is not associated with primary mitochondrial disease.
Mitochondrial disorders v10.18 OGDH Achchuthan Shanmugasundram Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v10.17 OGDH Achchuthan Shanmugasundram Tag Q3_26_expert_review tag was added to gene: OGDH.
Tag Q3_26_promote_green tag was added to gene: OGDH.
Mitochondrial disorders v10.17 OGDH Achchuthan Shanmugasundram Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 to Oxoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759
Mitochondrial disorders v10.16 OGDH Achchuthan Shanmugasundram reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383294, 36520152; Phenotypes: Oxoglutarate dehydrogenase deficiency, OMIM:203740, oxoglutaricaciduria, MONDO:0008759; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.95 OGDH Sarah Leigh Tag Q2_23_promote_green was removed from gene: OGDH.
Mitochondrial disorders v4.95 OGDH Sarah Leigh edited their review of gene: OGDH: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This gene is not associated with primary mitochondrial disease. Consensus opinion from the 3 specialist mitochondrial providers.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.94 OGDH Sarah Leigh Source NHS GMS was added to OGDH.
Mitochondrial disorders v4.30 OGDH Sarah Leigh Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disorders v4.30 OGDH Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Mitochondrial disorders v4.30 OGDH Sarah Leigh Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.29 OGDH Sarah Leigh Tag Q2_23_promote_green tag was added to gene: OGDH.
Mitochondrial disorders v4.29 OGDH Sarah Leigh edited their review of gene: OGDH: Added comment: Associated with relevant phenotype in OMIM and as moderate Gen2Phen gene. At least four variants have been reported in four unrelated cases, together with supportive functional studies (PMIDs: 32383294, 36520152).; Changed rating: GREEN
Mitochondrial disorders v4.29 OGDH Sarah Leigh Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency OMIM:203740; oxoglutaricaciduria MONDO:0008759 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759
Mitochondrial disorders v4.28 OGDH Sarah Leigh Publications for gene: OGDH were set to 32383294
Mitochondrial disorders v2.68 OGDH Sarah Leigh Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) to Alpha-ketoglutarate dehydrogenase deficiency OMIM:203740; oxoglutaricaciduria MONDO:0008759
Mitochondrial disorders v2.67 OGDH Sarah Leigh Mode of inheritance for gene: OGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.66 OGDH Sarah Leigh Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disorders v2.66 OGDH Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM. Limited association with OGDH-related mitochondrial disorder in Gen2Phen. PMID: 32383294 reported a single biallelic variant in two sibblings. Functional studies were performed on patient fibroblasts, which demonstrated reduced expression of OGDH and a reduced OGDH complex activity in comparison to the wild type. Drosophila models were constructed which supported the role of the OGDH variant in early developmental lethality.
Mitochondrial disorders v2.66 OGDH Sarah Leigh Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.65 OGDH Sarah Leigh Publications for gene: OGDH were set to
Mitochondrial disorders v2.63 OGDH Zornitza Stark reviewed gene: OGDH: Rating: AMBER; Mode of pathogenicity: None; Publications: 32383294; Phenotypes: Developmental delay, ataxia, seizure, raised lactate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal