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  3. OGDH
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Likely inborn error of metabolism

Gene: OGDH

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Created: 11 Oct 2023, 12:32 p.m.
Last Modified: 11 Oct 2023, 12:32 p.m.
Panel version: 4.51

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
Created: 9 May 2023, 12:42 p.m.
Last Modified: 9 May 2023, 12:42 p.m.
Panel version: 4.30

Catherine Snow (Genomics England)

Red List (low evidence)

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

Created: 22 Oct 2019, 9:26 a.m.
Last Modified: 22 Oct 2019, 9:26 a.m.
Panel version: 1.373

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: Imported from Undiagnosed metabolic disorders panel version 0.304

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740
  • oxoglutaricaciduria, MONDO:0008759
OMIM
613022
Clinvar variants
Variants in OGDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: OGDH.

11 Oct 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to OGDH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 May 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ogdh has been classified as Amber List (Moderate Evidence).

9 May 2023, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: OGDH.

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 Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 to Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759

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 (1); (OXOGLUTARIC ACIDURIA); Alpha-ketoglutarate dehydrogenase deficiency, 203740 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

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OGDH. Source London North GLH was added to OGDH.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1) for gene: OGDH

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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