1. Panels
  2. Likely inborn error of metabolism
  3. QRSL1
Genes in panel
Prev Next

Likely inborn error of metabolism

Gene: QRSL1

Green List (high evidence)
QRSL1 (glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1)
EnsemblGeneIds (GRCh38): ENSG00000130348
EnsemblGeneIds (GRCh37): ENSG00000130348
OMIM: 617209, Gene2Phenotype
QRSL1 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. At least 2 biallelic variants reported in two unrelated cases, together with supportive functional evidence.
Created: 25 Apr 2019, 11:59 a.m.
Created: 25 Apr 2019, 11:59 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.194

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three patients from unrelated families reported in the literature with bi-allelic variants in this gene, which encodes a mitochondrial tRNA synthase.
Created: 31 Aug 2018, 7:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Aug 2018, 7:04 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

two patients from one family reported to date
Created: 3 Feb 2016, 4:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 Feb 2016, 4:40 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 40, OMIM:618835
OMIM
617209
Clinvar variants
Variants in QRSL1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Aug 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835 to Combined oxidative phosphorylation deficiency 40, OMIM:618835

30 Aug 2022, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: QRSL1 were set to 29440775; 26741492

11 May 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to QRSL1. Mode of inheritance for gene QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1 Publications for gene QRSL1 were changed from to 29440775; 26741492 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: QRSL1 was added gene: QRSL1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: QRSL1 was set to Unknown Phenotypes for gene: QRSL1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)