Mitochondrial disorders
Gene: QARS
Comment on list classification: As reviewed by Zornitza Stark, QARS should be included in this panel with green rating in line with other t-RNA synthetases.Created: 17 Aug 2023, 12:31 p.m. | Last Modified: 17 Aug 2023, 12:41 p.m.
Panel Version: 4.82
PMID:32042906 - A total of 22 patients have so far been reported with biallelic QARS variants and with microcephaly, progressive, seizures, and cerebral and cerebellar atrophy (MIM #615760), of which 10 cases are from the cohort reported in this publication (epilepsy cohort and recruitment through GeneMatcher and their international network) and 12 cases are from previous literature and reviewed in this publication.Created: 17 Aug 2023, 12:27 p.m. | Last Modified: 17 Aug 2023, 12:27 p.m.
Panel Version: 4.78
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760
Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1Created: 6 Sep 2019, 1:57 p.m. | Last Modified: 6 Sep 2019, 1:57 p.m.
Panel Version: 1.485
Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.Created: 23 Mar 2020, 12:59 a.m. | Last Modified: 23 Mar 2020, 12:59 a.m.
Panel Version: 2.5
Enough patients reported in the literature for Green status, but what is the link to mitochondria/mitochondrial disease?Created: 31 Aug 2018, 7 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Publications
Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for microcephaly, progressive, seizures, and cerebral and cerebellar atrophy.Created: 2 Mar 2016, 1:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: qars has been classified as Amber List (Moderate Evidence).
Gene: qars has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: QARS.
Phenotypes for gene: QARS were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Publications for gene: QARS were set to
Mode of inheritance for gene: QARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag new-gene-name tag was added to gene: QARS.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
QARS was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list