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Inborn errors of metabolism

Gene: GLUL

Green List (high evidence)

GLUL (glutamate-ammonia ligase)
EnsemblGeneIds (GRCh38): ENSG00000135821
EnsemblGeneIds (GRCh37): ENSG00000135821
OMIM: 138290, Gene2Phenotype
GLUL is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases.
Created: 15 Aug 2019, 10:02 a.m. | Last Modified: 15 Aug 2019, 10:02 a.m.
Panel Version: 1.140
Comment on phenotypes: Intellectual disability;Glutamine deficiency, congenital (Other disorder of amino acid metabolism)
Created: 15 Aug 2019, 10 a.m. | Last Modified: 15 Aug 2019, 10 a.m.
Panel Version: 1.138

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glutamine deficiency, congenital 610015
OMIM
138290
Clinvar variants
Variants in GLUL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: glul has been classified as Green List (High Evidence).

15 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLUL were set to 27604308; 16267323; 21353613

15 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GLUL were set to 27604308

15 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GLUL were changed from Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism) to Glutamine deficiency, congenital 610015

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GLUL. Source London North GLH was added to GLUL.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GLUL was added gene: GLUL was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 27604308 Phenotypes for gene: GLUL were set to Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism)