Hereditary neuropathy or pain disorder
Gene: OGDH

OGDH (oxoglutarate dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105953
EnsemblGeneIds (GRCh37): ENSG00000105953
OMIM: 613022, Gene2Phenotype
OGDH is in 5 panels

1 review

Alexander Rossor (UCL Institute of Neurology)

I don't know

Only two families described so far
Sources: Expert list
Created: 12 Jul 2026, 11:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
peripheral neuropathy; cerebellar ataxia; optic neuropathy

Publications

42266417

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 12 Jul 2026, 11:48 a.m.

Panel version: 8.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Phenotypes

peripheral neuropathy
cerebellar ataxia
optic neuropathy

OMIM

613022

Clinvar variants

Variants in OGDH

Penetrance

None

Publications

42266417

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

12 Jul 2026, Gel status: 0

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

Alexander Rossor (UCL Institute of Neurology)

gene: OGDH was added gene: OGDH was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: OGDH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OGDH were set to 42266417 Phenotypes for gene: OGDH were set to peripheral neuropathy; cerebellar ataxia; optic neuropathy Mode of pathogenicity for gene: OGDH was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: OGDH was set to AMBER

Hereditary neuropathy or pain disorder Gene: OGDH