1. Genes and Genomic Entities
  2. GLUL

GLUL

glutamate-ammonia ligase
OMIM: 138290, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green GLUL in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glutamine deficiency, congenital 610015
Green GLUL in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Glutamine deficiency, congenital 610015
    Green GLUL in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY
    Green GLUL in DDG2P


    Version 6.424
    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
    • CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015
    Green GLUL in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Glutamine deficiency, congenital, OMIM:610015
    • Developmental and epileptic encephalopathy 116, OMIM:620806
    • congenital brain dysgenesis due to glutamine synthetase deficiency, MONDO:0012393
    • developmental and epileptic encephalopathy 116, MONDO:0970945
    Tags
    • Q1_26_MOI
    Green GLUL in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Glutamine deficiency, congenital, OMIM:610015
    • Developmental and epileptic encephalopathy 116, OMIM:620806
    • congenital brain dysgenesis due to glutamine synthetase deficiency, MONDO:0012393
    • developmental and epileptic encephalopathy 116, MONDO:0970945
    Tags
    • Q1_26_MOI
    Red GLUL in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH