Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Mitochondrial disorders v2.174 UQCRC1 Arina Puzriakova Classified gene: UQCRC1 as Amber List (moderate evidence)
Mitochondrial disorders v2.174 UQCRC1 Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804)
Mitochondrial disorders v2.174 UQCRC1 Arina Puzriakova Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v2.173 UQCRC1 Arina Puzriakova Publications for gene: UQCRC1 were set to
Mitochondrial disorders v2.172 UQCRC1 Arina Puzriakova Mode of inheritance for gene: UQCRC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders v2.171 UQCRC1 Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from No OMIM phenotype to Parkinsonism with polyneuropathy, OMIM:619279