Genomics England
GMS Panels
Panels
Genes and Entities

OGDH

oxoglutarate dehydrogenase
OMIM: 613022
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OGDH-related neurodevelopmental disorder
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740, oxoglutaricaciduria, MONDO:0008759