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Molecular autopsy

Gene: SARS2

Green List (high evidence)

SARS2 (seryl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 15 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
612804
Clinvar variants
Variants in SARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 for gene: SARS2 Publications for gene SARS2 were changed from 27604308 to PMID: 21255763; 24034276

20 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SARS2 Publications for gene SARS2 were changed from PMID: 21255763; 24034276 to 27604308

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SARS2 was added gene: SARS2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to PMID: 21255763; 24034276 Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))