Renal tubulopathies
Gene: SARS2EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 13 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:45 a.m. | Last Modified: 8 Mar 2022, 11:45 a.m.
Panel Version: 2.32
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, 3:25 p.m. | Last Modified: 5 Aug 2020, 3:25 p.m.
Panel Version: 2.15
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, 3:25 p.m. | Last Modified: 5 Aug 2020, 3:25 p.m.
Panel Version: 2.15
Sources: LiteratureCreated: 5 Aug 2020, 3:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845
- Progressive Spastic Paresis
- OMIM
- 612804
- Clinvar variants
- Variants in SARS2
- Penetrance
- None
- Publications
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SARS2 were changed from Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845; Progressive Spastic Paresis
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: SARS2.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to SARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: SARS2 was added gene: SARS2 was added to Renal tubulopathies. Sources: Literature Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 21255763; 24034276; 27279129 Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis Review for gene: SARS2 was set to AMBER