Mitochondrial disorders
Gene: QRSL1EnsemblGeneIds (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)
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)
two patients from one family reported to dateCreated: 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
-
- Combined oxidative phosphorylation deficiency 40, OMIM:618835
- OMIM
- 617209
- Clinvar variants
- Variants in QRSL1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
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
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: QRSL1 were set to 29440775; 26741492
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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: qrsl1 has been classified as Green List (High Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: QRSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: QRSL1 were set to
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to QRSL1. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)QRSL1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list