Pulmonary arterial hypertension

Gene: SARS2

Amber List (moderate evidence)

SARS2 (seryl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 13 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 5 Aug 2020, 3:26 p.m. | Last Modified: 5 Aug 2020, 3:26 p.m.
Panel Version: 2.5
Comment on list classification: Associated with Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least 3 unrelated cases, together with supportive functional studies and segregation with the phenotype.
Created: 5 Aug 2020, 3:23 p.m. | Last Modified: 5 Aug 2020, 3:23 p.m.
Panel Version: 2.5

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: SARS2; Suggested initial gene rating: Amber; Evidence for inclusion: OMIM Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis; Evidence for exclusion: Severe infantile syndrome, PAH unlikely to be presenting feature; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:01 p.m.

History Filter Activity

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sars2 has been classified as Amber List (Moderate Evidence).

5 Aug 2020, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: SARS2.

6 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SARS2 was added gene: SARS2 was added to Pulmonary arterial hypertension. Sources: NHS GMS Mode of inheritance for gene: SARS2 was set to