Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Likely inborn error of metabolism v8.110 NDUFA5 Achchuthan Shanmugasundram Classified gene: NDUFA5 as Amber List (moderate evidence)
Likely inborn error of metabolism v8.110 NDUFA5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five patients from four unrelated families reported with complex I deficiency and biallelic NDUFA5 variants. There is also functional evidence available from in vitro studies and animal models. Hence, this gene can be promoted to green rating in the next GMS update.
Likely inborn error of metabolism v8.110 NDUFA5 Achchuthan Shanmugasundram Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.109 NDUFA5 Achchuthan Shanmugasundram Phenotypes for gene: NDUFA5 were changed from No OMIM phenotype; Isolated complex I deficiency to mitochondrial complex I deficiency, MONDO:0100133
Likely inborn error of metabolism v8.109 NDUFA5 Achchuthan Shanmugasundram Publications for gene: NDUFA5 were set to
Likely inborn error of metabolism v8.108 NDUFA5 Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: NDUFA5.
Likely inborn error of metabolism v8.108 NDUFA5 Achchuthan Shanmugasundram Mode of inheritance for gene: NDUFA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v8.108 NDUFA5 Achchuthan Shanmugasundram Classified gene: NDUFA5 as Amber List (moderate evidence)
Likely inborn error of metabolism v8.108 NDUFA5 Achchuthan Shanmugasundram Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v8.107 NDUFA5 Achchuthan Shanmugasundram reviewed gene: NDUFA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41859003, 41916321; Phenotypes: mitochondrial complex I deficiency, MONDO:0100133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v0.4 NDUFA5 Ellen McDonagh gene: NDUFA5 was added
gene: NDUFA5 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA5 was set to Unknown
Phenotypes for gene: NDUFA5 were set to No OMIM phenotype; Isolated complex I deficiency