Hereditary spastic paraplegia - childhood onset

Gene: SARS2

Amber List (moderate 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)

I don't know

PMID 27279129 reports a child with progressive spastic paresis with a homozygous splicing variant (c.1347G>A (NM_017827.3)), which was shown in vitro to result in retention of intron 14 and premature chain termination, leading to diminished levels of the synthetase in patient's fibroblasts.
Sources: Literature
Created: 5 Aug 2020, 2:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845; Progressive Spastic Paresis

Publications

History Filter Activity

5 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sars2 has been classified as Amber List (Moderate Evidence).

5 Aug 2020, Gel status: 1

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 Hereditary spastic paraplegia - childhood onset. 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