Likely inborn error of metabolism - targeted testing not possible
Gene: OGDH
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 12:32 p.m. | Last Modified: 11 Oct 2023, 12:32 p.m.
Panel Version: 4.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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: 4.31
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, 12:42 p.m. | Last Modified: 9 May 2023, 12:42 p.m.
Panel Version: 4.30
OGDH is in OMIM but not in Gene2Phenotype.
Little published evidence for a gene to disease relationship, therefore maintaining Red classification for OGDH.Created: 22 Oct 2019, 9:26 a.m. | Last Modified: 22 Oct 2019, 9:26 a.m.
Panel Version: 1.373
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-ketoglutarate dehydrogenase deficiency, 203740
Although the function of the gene has been found to be associated to alpha-ketoglutarate dehydrogenase deficiency PMID 1542694, no variants have been described to date for this disorder.Created: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
Unknown
Phenotypes
Alpha-ketoglutarate dehydrogenase deficiency, 203740; (OXOGLUTARIC ACIDURIA)
Publications
Tag Q2_23_promote_green was removed from gene: OGDH.
Source Expert Review Green was added to OGDH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ogdh has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: OGDH.
Mode of inheritance for gene: OGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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
Phenotypes for gene: OGDH were changed from 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759
Publications for gene: OGDH were set to 27604308
Source NHS GMS was added to OGDH. Source London North GLH was added to OGDH.
Sarah Leigh: Associated with phenotype in O
Added phenotypes Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) for gene: OGDH
gene: OGDH was added gene: OGDH was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: OGDH was set to Unknown Publications for gene: OGDH were set to 27604308 Phenotypes for gene: OGDH were set to 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740