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| Early onset or syndromic epilepsy v1.331 | PARS2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to PARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.330 | PARS2 | Rebecca Foulger Source NHS GMS was added to PARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.320 | PARS2 | Rebecca Foulger commented on gene: PARS2: Kept rating as Green based on Green post-Webex review from Helen Lord. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.262 | PARS2 | Rebecca Foulger reviewed gene: PARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.261 | PARS2 | Helen Lord reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.112 | PARS2 | Eleanor Williams Classified gene: PARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.112 | PARS2 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as found in more than 3 cases and variants segregate with the condition in all families. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.112 | PARS2 | Eleanor Williams Gene: pars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.111 | PARS2 |
Eleanor Williams gene: PARS2 was added gene: PARS2 was added to Genetic epilepsy syndromes. Sources: Other Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to 22237560; 25629079; 27290639; 29410512; 29410512; 29915213 Phenotypes for gene: PARS2 were set to Epileptic encephalopathy, early infantile, 75, 618437 Review for gene: PARS2 was set to GREEN Added comment: An association of this gene with Epileptic encephalopathy, early infantile, 75 (#618437) has recently been added to OMIM (May 2019). The gene is predicted to encode for prolyl-tRNA synthetase. Compound heterozygous mutations in PARS2 have been reported in individuals from 4 unrelated families (Swedish (PMID: 22237560, 25629079), Polish (PMID: 27290639, 29410512), Japanese (PMID: 28077841), Chinese (PMID: 29915213). In all cases the children presented with seizures/epilepsy under the age of 1 year. Other clinical features included developmental delay in all and dilated cardiomyopathy in 2 patients. Of the seven variants reported six are missense and one is a 1 bp duplication resulting in a frameshift. In the publication about the Chinese family (PMID: 29915213) OMIM report that the missense variants were assessed as being pathogenic according to ACMG guidelines. In all families the variants segregated with the disorder. Functional studies were only carried out in one case (PMID: 25629079). In this case the levels of prolyl-tRNA synthetase in the patient did not differ significantly from control levels when normalized to GAPDH. Sources: Other |
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