1. Panels
  2. Renal Tubulopathies and related disorders
  3. SARS2
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related disorders

Gene: SARS2

Green List (high evidence)
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

Created: 22 Mar 2022, 8:58 a.m.
Last Modified: 22 Mar 2022, 8:58 a.m.
Panel version: Imported from Metabolic renal disease 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 Metabolic renal disease panel version Imported from Mendeliome panel version 0.11719

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • neurodevelopmental disorder MONDO#070009, SARS1-related
OMIM
612804
Clinvar variants
Variants in SARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SARS2 was added gene: SARS2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 35790048; 28236339; 36041817; 34570399 Phenotypes for gene: SARS2 were set to neurodevelopmental disorder MONDO#070009, SARS1-related