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  3. OGDH
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Undiagnosed metabolic disorders

Gene: OGDH

Green List (high evidence)
OGDH (oxoglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105953
EnsemblGeneIds (GRCh37): ENSG00000105953
OMIM: 613022, Gene2Phenotype
OGDH is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: 1.586
Created: 9 May 2023, 12:43 p.m.
Last Modified: 9 May 2023, 12:43 p.m.
Panel version: 1.586

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

Red List (low evidence)

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

Created: 23 Feb 2017, 5:15 p.m.

Panel version: 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740
  • oxoglutaricaciduria, MONDO:0008759
OMIM
613022
Clinvar variants
Variants in OGDH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ogdh has been classified as Green List (High Evidence).

9 May 2023, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: OGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 May 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: OGDH were changed from 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle); Alpha-ketoglutarate dehydrogenase deficiency, 203740; (OXOGLUTARIC ACIDURIA) to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759

9 May 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OGDH were set to 27604308

27 Feb 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

24 Feb 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

OGDH was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red OGDH was added to Undiagnosed metabolic disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene OGDH was set to Unknown

28 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

OGDH was created by sleigh

28 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

OGDH was added to Undiagnosed metabolic disorderspanel. Sources: Literature