Hereditary Spastic Paraplegia - paediatric
Gene: SARS2
SARS2 (seryl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000104835
EnsemblGeneIds (GRCh37): ENSG00000104835
OMIM: 612804, Gene2Phenotype
SARS2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single individual reported with homozygous splicing mutation in SARS2 and with progressive spastic paresis rather than HUPRA syndrome (hyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis) which is generally associated with missense variants in this gene.
Sources: LiteratureCreated: 20 Sep 2020, 6:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive spastic paraplegia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Progressive spastic paraplegia
- OMIM
- 612804
- Clinvar variants
- Variants in SARS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Sep 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sars2 has been classified as Red List (Low Evidence).
20 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SARS2 was added gene: SARS2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARS2 were set to 27279129 Phenotypes for gene: SARS2 were set to Progressive spastic paraplegia Review for gene: SARS2 was set to RED