GLS

glutaminase
OMIM: 138280, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber GLS in Cataract


Level 2: Ophthalmological disorders
Version 0.373

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685

Green GLS in Mendeliome


Version 1.2374

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 71, MIM# 618328
  • Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412
  • Cataract

Green GLS in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 71, MIM# 618328
    • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685

    Green GLS in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 71, MIM# 618328
    • Global developmental delay, progressive ataxia, and elevated glutamine, MIM# 618412

    Green GLS in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.48

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 71 MIM#618328
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
    • disorder of amino acid metabolism

    Green GLS in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Glutaminase deficiency MONDO:0600001
    • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685

    Green GDPAG STR in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.48

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412

    Green GDPAG STR in Repeat Disorders


    Version 0.168

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
    Tags
    • paediatric-onset