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Inborn errors of metabolism

Gene: OGDH

Red List (low evidence)

OGDH (oxoglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105953
EnsemblGeneIds (GRCh37): ENSG00000105953
OMIM: 613022, Gene2Phenotype
OGDH is in 3 panels

3 reviews

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

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
Unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • 2-Oxoglutarate dehydrogenase deficiency (Disorders of the citric acid cycle)
  • Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
  • (OXOGLUTARIC ACIDURIA)
  • Alpha-ketoglutarate dehydrogenase deficiency, 203740
OMIM
613022
Clinvar variants
Variants in OGDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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