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Mendeliome

Gene: PARS2

Green List (high evidence)

PARS2 (prolyl-tRNA synthetase 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000162396
EnsemblGeneIds (GRCh37): ENSG00000162396
OMIM: 612036, Gene2Phenotype
PARS2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Eight individuals from four unrelated families reported; seizures are a prominent part of the phenotype.
Created: 2 Jan 2020, 11:13 p.m. | Last Modified: 2 Jan 2020, 11:13 p.m.
Panel Version: 0.545

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 75, MIM# 618437

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 75, MIM# 618437
OMIM
612036
Clinvar variants
Variants in PARS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PARS2 were changed from to Epileptic encephalopathy, early infantile, 75, MIM# 618437

2 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PARS2 were set to

2 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PARS2 was added gene: PARS2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PARS2 was set to Unknown