Mitochondrial disease
Gene: PARS2

PARS2 (prolyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000162396
EnsemblGeneIds (GRCh37): ENSG00000162396
OMIM: 612036, Gene2Phenotype
PARS2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eight individuals from four unrelated families reported; seizures are a prominent part of the phenotype.
Created: 2 Jan 2020, 11:11 p.m. | Last Modified: 2 Jan 2020, 11:11 p.m.

Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 75, MIM# 618437

Publications

Created: 2 Jan 2020, 11:11 p.m.
Last Modified: 2 Jan 2020, 11:11 p.m.
Panel version: 0.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Epileptic encephalopathy, early infantile, 75, MIM# 618437

OMIM

612036

Clinvar variants

Variants in PARS2

Penetrance

None

Publications

Panels with this gene