PanelApp (staging)
  1. Genes and Genomic Entities
  2. GLUL

GLUL

glutamate-ammonia ligase
OMIM: 138290, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green GLUL in Mendeliome


Version 1.2302

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 116, MIM# 620806
  • Glutamine deficiency, congenital MIM#610015
  • disorder of amino acid metabolism

Green GLUL in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Glutamine deficiency, congenital MIM#610015
    • Developmental and epileptic encephalopathy 116, MIM# 620806

    Green GLUL in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green GLUL in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Glutamine deficiency, congenital MIM#610015
    • Developmental and epileptic encephalopathy 116, MIM# 620806

    Red GLUL in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Congenital brain dysgenesis due to glutamine synthetase deficiency

    Green GLUL in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.48

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Glutamine deficiency, congenital MIM#610015
    • Developmental and epileptic encephalopathy 116, MIM# 620806

    Green GLUL in Fetal anomalies


    Version 1.313

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Glutamine deficiency, congenital MIM#610015

    Green GLUL in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.133

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393

    Red GLUL in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Congenital brain dysgenesis due to glutamine synthetase deficiency