SARS2

seryl-tRNA synthetase 2, mitochondrial
OMIM: 612804, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red SARS2 in Extreme early-onset hypertension Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.23	review	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
Green SARS2 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Progressive Spastic Paresis
Amber SARS2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Progressive Spastic Paresis
Green SARS2 in Pulmonary arterial hypertension Level 2: Respiratory Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS
Amber SARS2 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845 Progressive Spastic Paresis
Green SARS2 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Green SARS2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Green SARS2 in Possible mitochondrial disorder - nuclear genes Level 2: Mitochondrial Version 4.20 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Green SARS2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845
Green SARS2 in Renal tubulopathies Level 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845 Progressive Spastic Paresis
Green SARS2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845
Green SARS2 in Mitochondrial disorders Level 2: Mitochondrial Version 9.41 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845
Red SARS2 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH