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Intellectual disability

Gene: OGDH

Amber List (moderate evidence)
OGDH (oxoglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105953
EnsemblGeneIds (GRCh37): ENSG00000105953
OMIM: 613022, Gene2Phenotype
OGDH is in 9 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available (five unrelated families) for the association of biallelic OGDH variants with global developmental delay. Hence, this gene can be promoted to green rating in the next GMS update.
Created: 29 Jul 2026, 7:50 p.m. | Last Modified: 29 Jul 2026, 7:50 p.m.
Panel Version: 10.83
PMID:32383294 (2021) reported two siblings identified with a homozygous missense variant c.959A>G (p.Asn320Ser) in the OGDH gene. These individuals presented with global developmental delay, elevated lactate, ataxia and seizure.

PMID:36520152 (2023) reported four unrelated individuals with 3 different homozygous OGDH variants and presenting with a neurodevelopmental disorder characterised by global developmental delay, movement disorder, and metabolic abnormalities.

There are six patients from five families reported in total with four different homozygous variants in OGDH gene and with a neurodevelopmental disorder with metabolic and movement abnormalities. Age of onset of the disease ranged from 6 weeks of age to 3 years old. All described individuals shared the clinical features of global developmental delay, hypotonia, metabolic acidosis and increased serum lactate. Additional shared clinical features included dystonia (5/6), microcephaly (3/4), abnormal nasal bridge morphology (3/6), hyperammonemia (3/6), hyperglutaminemia (3/3 who were tested), and elevated alpha-ketoglutarate in the urine (2/4 who were tested).

This gene has been associated with relevant phenotype in OMIM (MIM #203740, last accessed 29 July 2026) and in Gene2Phenotype (with 'moderate' rating on the DD panel). This gene has also been associated with mitochondrial disease (MONDO:0044970) with 'Definitive' rating by the Mitochondrial Diseases GCEP in ClinGen (https://search.clinicalgenome.org/CCID:009318)
Sources: Literature
Created: 29 Jul 2026, 7:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oxoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759

Publications

Created: 29 Jul 2026, 7:47 p.m.

Panel version: 10.82

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Oxoglutarate dehydrogenase deficiency, OMIM:203740
  • oxoglutaricaciduria, MONDO:0008759
Tags
Q3_26_promote_green
OMIM
613022
Clinvar variants
Variants in OGDH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jul 2026, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

29 Jul 2026, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: OGDH.

29 Jul 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: OGDH was added gene: OGDH was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDH were set to 32383294; 36520152 Phenotypes for gene: OGDH were set to Oxoglutarate dehydrogenase deficiency, OMIM:203740; oxoglutaricaciduria, MONDO:0008759 Review for gene: OGDH was set to GREEN