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Mitochondrial disorders

Gene: PARS2

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

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Phenotype added to OMIM in May 2019
Created: 27 Jun 2019, 3:20 p.m. | Last Modified: 27 Jun 2019, 3:20 p.m.
Panel Version: 1.401
Created: 27 Jun 2019, 3:20 p.m.
Last Modified: 27 Jun 2019, 3:20 p.m.
Panel version: 1.401

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Please note multiple recent publications confirming gene-disease association.
Created: 31 Aug 2018, 4:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Aug 2018, 4:41 a.m.

Panel version: 1.67

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Amber to Green due to more than 3 unrelated families reported.
Created: 29 Mar 2019, 2:04 p.m.
Comment on mode of inheritance: A compound heterozygote patient was reported in PMID: 25629079.
Created: 20 Apr 2016, 3:03 p.m.
Comment on mode of inheritance: PMID: 25629079 reports a homozygous and a compound heterozygous case.
Created: 20 Apr 2016, 2:53 p.m.
Comment on list classification: Promoted from red to amber.
Created: 20 Apr 2016, 2:51 p.m.
Created: 20 Apr 2016, 2:51 p.m.

Panel version: 0.540

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Alpers syndrome
  • Epileptic encephalopathy, early infantile, 75, 618437
OMIM
612036
Clinvar variants
Variants in PARS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Jul 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome; Epileptic encephalopathy, early infantile, 75, 618437 to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Alpers syndrome; Epileptic encephalopathy, early infantile, 75, 618437

27 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome. to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome; Epileptic encephalopathy, early infantile, 75, 618437

29 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

29 Mar 2019, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: PARS2 were set to PMID: 25629079 (single case)

28 Aug 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PARS2. Panel: Mitochondrial disorders

20 Apr 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PARS2 were set to PMID: 25629079 (single case)

20 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PARS2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome.

20 Apr 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PARS2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Apr 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PARS2 were set to PMID: 25629079

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

30 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen