Extreme early-onset hypertension
Gene: SARS2
SARS2 (seryl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 13 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 3/4 sources. No reviewers' comments. One likely Hmz LOF variant reported in infant with Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (OMIM 613845)(PMID 21255763)Created: 3 Jun 2016, 7:44 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
- OMIM
- 612804
- Clinvar variants
- Variants in SARS2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Extreme early-onset hypertension
- Intellectual disability
- Unexplained kidney failure in young people
- Pulmonary arterial hypertension
- Hereditary spastic paraplegia
- Renal tubulopathies
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
3 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted 03/08/2016
3 Jun 2016, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for SARS2 were set to 21255763
3 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
3 Jun 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
3 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
3 Jun 2016, Gel status: 3
Upload gene information
Sarah Leigh (Genomics England Curator)SARS2 was added to Extreme early-onset hypertensionpanel. Sources: UKGTN
28 Apr 2015, Gel status: 2
Added New Source
GEL ()SARS2 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen
28 Apr 2015, Gel status: 1
Added New Source
GEL ()SARS2 was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services