Mitochondrial disorders
Gene: QRSL1Comment 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.
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
two patients from one family reported to dateCreated: 3 Feb 2016, 4:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Publications for gene: QRSL1 were set to 29440775; 26741492
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
Gene: qrsl1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: QRSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QRSL1 were set to
Victorian Clinical Genetics Services was added to QRSL1. Panel: Mitochondrial disorders
QRSL1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list