1. Genes and Genomic Entities
  2. OGDHL

OGDHL

oxoglutarate dehydrogenase like
OMIM: 617513, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green OGDHL in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.76
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
    Tags
    • gene-checked
    Green OGDHL in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.44
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
    Tags
    • gene-checked
    Green OGDHL in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia
    Tags
    • gene-checked
    Green OGDHL in Monogenic hearing loss


    Level 2: Audiology
    Version 5.64
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
    Tags
    • gene-checked
    Green OGDHL in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.173
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
    Tags
    • gene-checked
    Green OGDHL in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Yoon-Bellen neurodevelopmental syndrome, OMIM:619701
    Tags
    • gene-checked