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Genetic epilepsy syndromes

Gene: PARS2

Green List (high evidence)

PARS2 (prolyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000162396
EnsemblGeneIds (GRCh37): ENSG00000162396
OMIM: 612036, Gene2Phenotype
PARS2 is in 5 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Kept rating as Green based on Green post-Webex review from Helen Lord.
Created: 9 Sep 2019, 10:36 a.m. | Last Modified: 9 Sep 2019, 10:36 a.m.
Panel Version: 1.320
Review and rating collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene was added to the Genetic epilepsy syndromes panel after the initial panel was reviewed by West Midlands, Oxford and Wessex GLH: this gene was therefore reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

AR EIEE75. Sofou et al, 2015 (25629079) - Swedish boy presented at 2.5 months with seizures and signs of psychomotor regression, died age 2 - compound het mutations. Ciara et al, 2018 (29410512) - 3 Polish sibs with EIEE75 - they presented in infancy with globbal dev delay and onset of severe refractory epilepsy with myoclonic jerks and hypsarrhythmia in the first few months of life. The sibs died at 8.5, 8 and 4 years respectively. Compound het missense variants (P364R and I80T. Mizguchi et al, 2017 (28077841)- 2 sisters aged 9 and 13 who both presented with refractory seizures and severe EEG abnormalities in first 4-5 months of life. Compound het missense variants (V95I and E203K). Yin et al, 2018 (29915213) - 2 Chinese sisters who both developed intractable frequent seizures assoc with hypsarrhythmia witihn 1st year of life. One died age 4 months. Compound het missense variants (V95I and R202G).
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changing rating from red to green as found in more than 3 cases and variants segregate with the condition in all families.
Created: 4 Jul 2019, 12:43 p.m. | Last Modified: 4 Jul 2019, 12:43 p.m.
Panel Version: 1.112
An association of this gene with Epileptic encephalopathy, early infantile, 75 (#618437) has recently been added to OMIM (May 2019). The gene is predicted to encode for prolyl-tRNA synthetase.

Compound heterozygous mutations in PARS2 have been reported in individuals from 4 unrelated families (Swedish (PMID: 22237560, 25629079), Polish (PMID: 27290639, 29410512), Japanese (PMID: 28077841), Chinese (PMID: 29915213). In all cases the children presented with seizures/epilepsy under the age of 1 year. Other clinical features included developmental delay in all and dilated cardiomyopathy in 2 patients.

Of the seven variants reported six are missense and one is a 1 bp duplication resulting in a frameshift. In the publication about the Chinese family (PMID: 29915213) OMIM report that the missense variants were assessed as being pathogenic according to ACMG guidelines.

In all families the variants segregated with the disorder.

Functional studies were only carried out in one case (PMID: 25629079). In this case the levels of prolyl-tRNA synthetase in the patient did not differ significantly from control levels when normalized to GAPDH.
Sources: Other
Created: 4 Jul 2019, 12:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 75, 618437

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Epileptic encephalopathy, early infantile, 75, 618437
OMIM
612036
Clinvar variants
Variants in PARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PARS2.

17 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PARS2.

4 Jul 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pars2 has been classified as Green List (High Evidence).

4 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PARS2 was added gene: PARS2 was added to Genetic epilepsy syndromes. Sources: Other Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to 22237560; 25629079; 27290639; 29410512; 29410512; 29915213 Phenotypes for gene: PARS2 were set to Epileptic encephalopathy, early infantile, 75, 618437 Review for gene: PARS2 was set to GREEN