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Mitochondrial disorders v1.402 PARS2 Eleanor Williams 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
Mitochondrial disorders v1.401 PARS2 Eleanor Williams Added comment: Comment on phenotypes: Phenotype added to OMIM in May 2019
Mitochondrial disorders v1.401 PARS2 Eleanor Williams 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
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Classified gene: PARS2 as Green List (high evidence)
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to more than 3 unrelated families reported.
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.142 PARS2 Ellen McDonagh Publications for gene: PARS2 were set to PMID: 25629079 (single case)
Mitochondrial disorders PARS2 Zornitza Stark reviewed gene: PARS2