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Mitochondrial disorders

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.

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 40, 618835
OMIM
617209
Clinvar variants
Variants in QRSL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

25 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: qrsl1 has been classified as Green List (High Evidence).

25 Apr 2019, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: QRSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal

18 Apr 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: QRSL1 were set to

28 Aug 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to QRSL1. Panel: Mitochondrial disorders

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

QRSL1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list