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Mitochondrial disorder with complex I deficiency v3.23 NDUFA5 Achchuthan Shanmugasundram Classified gene: NDUFA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v3.23 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.
Mitochondrial disorder with complex I deficiency v3.23 NDUFA5 Achchuthan Shanmugasundram Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v3.22 NDUFA5 Achchuthan Shanmugasundram Phenotypes for gene: NDUFA5 were changed from No OMIM phenotype to mitochondrial complex I deficiency, MONDO:0100133
Mitochondrial disorder with complex I deficiency v3.21 NDUFA5 Achchuthan Shanmugasundram Publications for gene: NDUFA5 were set to
Mitochondrial disorder with complex I deficiency v3.20 NDUFA5 Achchuthan Shanmugasundram Mode of inheritance for gene: NDUFA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v3.19 NDUFA5 Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: NDUFA5.
Mitochondrial disorder with complex I deficiency v3.19 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
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Marked gene: NDUFA5 as ready
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Mitochondrial disorder with complex I deficiency v0.42 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.36 NDUFA5 Carl Fratter reviewed gene: NDUFA5: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.3 NDUFA5 Ivone Leong reviewed gene: NDUFA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.2 NDUFA5 Ivone Leong gene: NDUFA5 was added
gene: NDUFA5 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA5 was set to Unknown
Phenotypes for gene: NDUFA5 were set to No OMIM phenotype