Likely inborn error of metabolism - targeted testing not possible
Gene: PARS2Comment on phenotypes: Phenotype association added to OMIM in May 2019Created: 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 2019Created: 4 Jul 2019, 12:54 p.m. | Last Modified: 4 Jul 2019, 12:54 p.m.
Panel Version: 1.60
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.
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)
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.
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.
Sarah Leigh: Associated with relevant pheno
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.