Mitochondrial disease
Gene: SARS2

SARS2 (seryl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated families reported.
Created: 22 Mar 2022, 8:58 a.m. | Last Modified: 22 Mar 2022, 8:58 a.m.

Panel Version: 0.11750

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845

Publications

33751860

Created: 22 Mar 2022, 8:58 a.m.
Last Modified: 22 Mar 2022, 8:58 a.m.
Panel version: Imported from Mendeliome panel version 0.11750

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845

Publications

Created: 22 Mar 2022, 2:35 a.m.
Last Modified: 22 Mar 2022, 2:35 a.m.
Panel version: Imported from Mendeliome panel version 0.11719

Details

Mode of Inheritance

Unknown

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Expert Review Green
Victorian Clinical Genetics Services

OMIM

612804

Clinvar variants

Variants in SARS2

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SARS2 was added gene: SARS2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SARS2 was set to Unknown

Mitochondrial disease Gene: SARS2