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Mitochondrial disease

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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least three unrelated families reported.
Created: 13 Apr 2020, 7:38 a.m. | Last Modified: 13 Apr 2020, 7:38 a.m.
Panel Version: 0.350

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 40

Publications

Created: 13 Apr 2020, 7:38 a.m.
Last Modified: 13 Apr 2020, 7:38 a.m.
Panel version: 0.350

Details

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

History Filter Activity

13 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40

13 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: QRSL1 were set to

13 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: QRSL1 was added gene: QRSL1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: QRSL1 was set to Unknown