Genomics England
GMS Panels
Panels
Genes and Entities

OGDHL

oxoglutarate dehydrogenase like
OMIM: 617513
PanelMode of inheritanceDetails
6 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
Green
in Hereditary spastic paraplegia, childhood onset
R-numbers: R61
Signed-off version 9.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 6.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Yoon-Bellen neurodevelopmental syndrome, OMIM:619701