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Mendeliome

Gene: SARS

Green List (high evidence)

SARS (seryl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000031698
EnsemblGeneIds (GRCh37): ENSG00000031698
OMIM: 607529, Gene2Phenotype
SARS is in 5 panels

3 reviews

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

-Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families
-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation
Created: 6 Oct 2022, 3:36 a.m. | Last Modified: 6 Oct 2022, 3:36 a.m.
Panel Version: 1.361
- Single patient with complex spastic paraplegia with ataxia, intellectual disability, developmental delay and seizures, but without microcephaly de novo for a heterozygous variant (.969_969+2delGGT) which ablates a canonical splice site
- Patient fibroblasts showed reduced (~30%) aminoacylation activity
- Yeast complementation studies using mutant plasmid did not generate viable haploid strains (loss of function)
- Co-transfection of WT and mutant S.pombe SARS resulted in growth defect, suggesting a dominant negative defect
Created: 1 Sep 2022, 7:31 a.m. | Last Modified: 1 Sep 2022, 7:31 a.m.
Panel Version: 1.289

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Genetic peripheral neuropathy MONDO#0020127, SARS1-related

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

3rd family identified.

note that the gene is also known as SARS1
Created: 4 Aug 2022, 7:01 a.m. | Last Modified: 4 Aug 2022, 7:01 a.m.
Panel Version: 1.220

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO#070009, SARS1-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Summary - 2 unrelated families with overlapping ID phenotype, and supporting in vitro and patient cell assays.
PMID: 28236339 - an Iranian family (distantly related) segregating a homozygous missense (c.514G>A, p.Asp172Asn) with moderate ID, microcephaly, ataxia, speech impairment, and aggressive behaviour. Also, supporting in vitro functional assays demonstrating altered protein function.
PMID: 34570399 - a consanguineous Turkish family segregating a homozygous missense (c.638G>T, p.(Arg213Leu)) with developmental delay, central deafness, cardiomyopathy, and metabolic decompensation during fever leading to death. Also, reduced protein level and enzymatic activity in patient cells.
Sources: Literature
Created: 4 Oct 2021, 4:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder MONDO#070009, SARS1-related
  • Genetic peripheral neuropathy MONDO#0020127, SARS1-related
OMIM
607529
Clinvar variants
Variants in SARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SARS were changed from neurodevelopmental disorder MONDO#070009, SARS1-related to neurodevelopmental disorder MONDO#070009, SARS1-related; Genetic peripheral neuropathy MONDO#0020127, SARS1-related

1 Feb 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SARS were set to 28236339; 34570399; 35790048; 36041817

1 Feb 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SARS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Sep 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SARS were set to 28236339; 34570399; 35790048

4 Aug 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: SARS were set to 28236339; 34570399

4 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

4 Aug 2022, Gel status: 2

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: SARS were changed from Intellectual disability to neurodevelopmental disorder MONDO#070009, SARS1-related

4 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sars has been classified as Amber List (Moderate Evidence).

4 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sars has been classified as Amber List (Moderate Evidence).

4 Oct 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SARS was added gene: SARS was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS were set to 28236339; 34570399 Phenotypes for gene: SARS were set to Intellectual disability Review for gene: SARS was set to AMBER