DDG2P
Gene: PARS2

PARS2 (prolyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000162396
EnsemblGeneIds (GRCh37): ENSG00000162396
OMIM: 612036, Gene2Phenotype
PARS2 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy are definitive, biallelic_autosomal and undetermined (PMIDs: 25629079, 28077841, 29410512, 29915213, 32514400, 37956963, 38087948, 38469956, 39253392). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03749.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:618437.0; PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy; MONDO:0032752

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0032752
PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy
OMIM:618437.0

OMIM

612036

Clinvar variants

Variants in PARS2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PARS2 was added gene: PARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to 29410512; 32514400; 28077841; 39253392; 37956963; 38469956; 25629079; 29915213; 38087948 Phenotypes for gene: PARS2 were set to MONDO:0032752; PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy; OMIM:618437.0

DDG2P Gene: PARS2