Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Likely inborn error of metabolism v5.3 COX5A Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: COX5A.
Likely inborn error of metabolism v5.3 COX5A Sarah Leigh edited their review of gene: COX5A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.2 COX5A Achchuthan Shanmugasundram Source Expert Review Green was added to COX5A.
Source NHS GMS was added to COX5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v4.122 COX5A Sarah Leigh edited their review of gene: COX5A: Added comment: To date, two COX5A variants have been associated with Mitochondrial complex IV deficiency, nuclear type 20 (OMIM:619064) in two unrelated cases (PMID: 28247525;35246835). Analysis of patient fibroblasts has revealed a reduced enzymatic activity and protein levels of complex IV and several of its subunits, plus, lentiviral complementation rescues the complex IV deficiency (PMID: 28247525;35246835).; Changed rating: GREEN
Likely inborn error of metabolism v4.122 COX5A Sarah Leigh Classified gene: COX5A as Amber List (moderate evidence)
Likely inborn error of metabolism v4.122 COX5A Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism v4.122 COX5A Sarah Leigh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v4.121 COX5A Sarah Leigh Tag Q4_23_promote_green tag was added to gene: COX5A.
Likely inborn error of metabolism v4.121 COX5A Sarah Leigh Mode of inheritance for gene: COX5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v4.120 COX5A Sarah Leigh Phenotypes for gene: COX5A were changed from No OMIM phenotype to ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064; Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520
Likely inborn error of metabolism v4.119 COX5A Sarah Leigh Publications for gene: COX5A were set to
Likely inborn error of metabolism v0.4 COX5A Ellen McDonagh gene: COX5A was added
gene: COX5A was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: COX5A was set to Unknown
Phenotypes for gene: COX5A were set to No OMIM phenotype