Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

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

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Phenotype association added to OMIM in May 2019
Created: 4 Jul 2019, 12:55 p.m. | Last Modified: 4 Jul 2019, 12:55 p.m.
Panel Version: 1.60
Comment on phenotypes: Phenotype association added to OMIM in May 2019
Created: 4 Jul 2019, 12:54 p.m. | Last Modified: 4 Jul 2019, 12:54 p.m.
Panel Version: 1.60

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

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.
  • Epileptic encephalopathy, early infantile, 75, 618437
  • Alpers syndrome
OMIM
612036
Clinvar variants
Variants in PARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to PARS2. Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437; Alpers syndrome for gene: PARS2 Publications for gene PARS2 were changed from PMID: 25629079 (single case) to 28077841; 25629079; 29410512; 29915213 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Jul 2019, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PARS2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome. to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.

4 Jul 2019, Gel status: 2

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); Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: PARS2 was added gene: PARS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to PMID: 25629079 (single case) Phenotypes for gene: PARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome.