Possible mitochondrial disorder - nuclear genes
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: 0.203
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
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: 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.
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
Gene: pars2 has been classified as Green List (High Evidence).
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