Mitochondrial disorders
Gene: PARS2Comment on phenotypes: Phenotype added to OMIM in May 2019Created: 27 Jun 2019, 3:20 p.m. | Last Modified: 27 Jun 2019, 3:20 p.m.
Panel Version: 1.401
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
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.
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
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
Gene: pars2 has been classified as Green List (High Evidence).
Publications for gene: PARS2 were set to PMID: 25629079 (single case)
Victorian Clinical Genetics Services was added to PARS2. Panel: Mitochondrial disorders
Publications for PARS2 were set to PMID: 25629079 (single case)
Mode of inheritance for PARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for PARS2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Alpers syndrome.
Mode of inheritance for PARS2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Publications for PARS2 were set to PMID: 25629079
PARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
PARS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen