Mitochondrial disorders

Gene: QARS

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 10:34 a.m. | Last Modified: 2 May 2024, 10:34 a.m.

Panel Version: 6.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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 QARS1

Created: 6 Sep 2019, 1:57 p.m. | Last Modified: 6 Sep 2019, 1:57 p.m.

Panel Version: 1.485

Green List (high evidence)

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

• 28620870
• 25471517
• 25432320
• 25041233
• 24656866
• 32042906

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal