Mitochondrial disorders
Gene: OGDH
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.Created: 11 Oct 2023, 9:52 a.m. | Last Modified: 11 Oct 2023, 9:52 a.m.
Panel Version: 4.95
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 9 May 2023, 12:45 p.m. | Last Modified: 9 May 2023, 12:45 p.m.
Panel Version: 4.30
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).Created: 9 May 2023, 12:43 p.m. | Last Modified: 9 May 2023, 12:43 p.m.
Panel Version: 4.29
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.Created: 9 Dec 2021, 5:59 p.m. | Last Modified: 9 Dec 2021, 5:59 p.m.
Panel Version: 2.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done.Created: 4 Dec 2021, 2:53 a.m. | Last Modified: 4 Dec 2021, 2:53 a.m.
Panel Version: 2.63
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay; ataxia; seizure; raised lactate
Publications
Tag Q2_23_promote_green was removed from gene: OGDH.
Source NHS GMS was added to OGDH.
Gene: ogdh has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: OGDH.
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
Publications for gene: OGDH were set to 32383294
Phenotypes for gene: OGDH were changed from Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) to Alpha-ketoglutarate dehydrogenase deficiency OMIM:203740; oxoglutaricaciduria MONDO:0008759
Mode of inheritance for gene: OGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: ogdh has been classified as Amber List (Moderate Evidence).
Publications for gene: OGDH were set to
OGDH was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen