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Prepair 1000+

Gene: QARS

Green List (high evidence)
QARS (glutaminyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000172053
EnsemblGeneIds (GRCh37): ENSG00000172053
OMIM: 603727, Gene2Phenotype
QARS is in 7 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Approved gene symbol: QARS1

Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia.
Over 20 individuals reported.
Model animal present - zebrafish.
Created: 9 Dec 2024, 12:53 a.m. | Last Modified: 9 Dec 2024, 12:53 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 9 Dec 2024, 12:53 a.m.
Last Modified: 9 Dec 2024, 12:53 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760
OMIM
603727
Clinvar variants
Variants in QARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: qars has been classified as Green List (High Evidence).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: QARS were changed from Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3) to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy MIM#615760

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: QARS were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: QARS was added gene: QARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)