GLS

glutaminase
OMIM: 138280, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber GLS in Ataxia and cerebellar anomalies - narrow panel


Version 2.241
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    • Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
    Tags
    • for-review
    • STR

    Red GLS in Congenital disorders of glycosylation

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 2.76
    Latest signed off version: v2.4 (4 Mar 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Unknown
    Sources
    • Literature
    Phenotypes
    • Glucosidase 1 deficiency (Disorders of protein N-glycosylation)

    Amber GLS in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.85
    Latest signed off version: v2.76 (5 Aug 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
    • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685

    Red GLS in Corneal abnormalities

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 1.9

    review Unknown
    Sources
    • Expert Review Red
    • GDL Corneal Abnormalities panel
    Phenotypes
    • Corneal dystrophy abstract
    Tags
    • watchlist

    Amber GLS in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.486

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    • Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
    • Developmental and epileptic encephalopathy 71, OMIM:618328
    • Developmental and epileptic encephalopathy, 71, MONDO:0032678
    • ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
    • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685
    Tags
    • STR
    • for-review

    Green GLS in Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    • Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
    • Developmental and epileptic encephalopathy 71, OMIM:618328
    • Developmental and epileptic encephalopathy, 71, MONDO:0032678
    • ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
    • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685
    Tags
    • STR
    • for-review

    Amber GLS in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.448
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 71, OMIM:618328
    • Developmental and epileptic encephalopathy, 71, MONDO:0032678

    Amber GLS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    • Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
    • ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339
    • Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, MONDO:0032685
    Tags
    • STR
    • for-review

    Red GLS_GCA STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.241
    Latest signed off version: v2.23 (8 Oct 2020)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    • Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
    Tags
    • STR
    • NGS Not Validated
    • for-review

    Red GLS_GCA STR in Inborn errors of metabolism


    Version 2.187
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    • Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
    Tags
    • STR
    • NGS Not Validated
    • for-review

    Red GLS_GCA STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412
    • Global developmental delay, progressive ataxia, and elevated glutamine, MONDO:0032733
    Tags
    • STR
    • NGS Not Validated
    • for-review