Pulmonary arterial hypertension
Gene: SARS2EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 13 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 1:56 p.m. | Last Modified: 4 Dec 2024, 1:56 p.m.
Panel Version: 3.8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
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)
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 givenCreated: 6 Dec 2018, 2:01 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 612804
- Clinvar variants
- Variants in SARS2
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Extreme early-onset hypertension
- Unexplained kidney failure in young people
- Pulmonary arterial hypertension
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- DDG2P
- Renal tubulopathies
- Intellectual disability
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag for-review was removed from gene: SARS2. Tag to_be_confirmed_NHSE was removed from gene: SARS2.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to SARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: SARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Ivone Leong (Genomics England Curator)Tag to_be_confirmed_NHSE tag was added to gene: SARS2.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: sars2 has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag for-review tag was added to gene: SARS2.
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