Unexplained kidney failure in young people
Gene: SARS2EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 13 panels
1 review
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: 1.91
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, 3:24 p.m. | Last Modified: 5 Aug 2020, 3:24 p.m.
Panel Version: 1.91
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 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
- Intellectual disability
- 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
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: sars2 has been classified as Green List (High Evidence).
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from 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, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: SARS2 was added gene: SARS2 was added to Unexplained kidney failure in young people. 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