Extreme early-onset hypertension

Gene: SARS2

Red List (low evidence)

SARS2 (seryl-tRNA synthetase 2, mitochondrial)
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

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