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Possible mitochondrial disorder - nuclear genes

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial cardiomyopathy

Publications

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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial cardiomyopathy
  • Combined oxidative phosphorylation deficiency 40, 618835
OMIM
617209
Clinvar variants
Variants in QRSL1
Penetrance
None
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 Mitochondrial cardiomyopathy to Mitochondrial cardiomyopathy; Combined oxidative phosphorylation deficiency 40, 618835

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: QRSL1 was added gene: QRSL1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: QRSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QRSL1 were set to 30283131; 26741492 Phenotypes for gene: QRSL1 were set to Mitochondrial cardiomyopathy