Mitochondrial disorders

Gene: OGDH

Green List (high evidence)

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

I don't know

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

• 32383294

Green List (high evidence)