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Possible mitochondrial disorder - nuclear genes

Gene: QARS

Red List (low evidence)

QARS (glutaminyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000172053
EnsemblGeneIds (GRCh37): ENSG00000172053
OMIM: 603727, Gene2Phenotype
QARS is in 10 panels

5 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1
Created: 6 Sep 2019, 1:58 p.m. | Last Modified: 6 Sep 2019, 1:58 p.m.
Panel Version: 1.2

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760

Zornitza Stark (Australian Genomics)

I don't know

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

Publications

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
Tags
new-gene-name
OMIM
603727
Clinvar variants
Variants in QARS
Penetrance
None
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 1

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: QARS.

4 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: QARS was added gene: QARS was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760