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Possible mitochondrial disorder - nuclear genes

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

5 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: 0.203
Created: 27 Jun 2019, 3:20 p.m.
Last Modified: 27 Jun 2019, 3:20 p.m.
Panel version: 0.203

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile-onset neurodegenerative disorder; Infantile-onset encephalopathy; Alpers syndrome

Publications

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

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: Imported from Mitochondrial disorders panel version 1.67

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 unrelated families reported.
Created: 29 Mar 2019, 2:05 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: Imported from Mitochondrial disorders 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: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Infantile-onset encephalopathy
  • Alpers syndrome
  • Infantile-onset neurodegenerative disorder
  • Epileptic encephalopathy, early infantile, 75, 61843
OMIM
612036
Clinvar variants
Variants in PARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PARS2 were changed from Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder to Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder; Epileptic encephalopathy, early infantile, 75, 61843

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).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PARS2 was added gene: PARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to 28077841; 27290639; 25629079; 29915213 Phenotypes for gene: PARS2 were set to Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder