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Mitochondrial disorder with complex I deficiency v2.3 NDUFA12 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA12.
Tag Q3_22_NHS_review was removed from gene: NDUFA12.
Mitochondrial disorder with complex I deficiency v2.3 NDUFA12 Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.2 NDUFA12 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v1.20 NDUFA12 Arina Puzriakova Phenotypes for gene: NDUFA12 were changed from ?Mitochondrial complex I deficiency, nuclear type 23, 618244 to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
Mitochondrial disorder with complex I deficiency v1.19 NDUFA12 Arina Puzriakova Publications for gene: NDUFA12 were set to 21617257
Mitochondrial disorder with complex I deficiency v1.17 NDUFA12 Arina Puzriakova commented on gene: NDUFA12: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Mitochondrial disorder with complex I deficiency v1.16 NDUFA12 Arina Puzriakova reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v1.15 NDUFA12 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA12.
Tag Q3_22_NHS_review tag was added to gene: NDUFA12.
Mitochondrial disorder with complex I deficiency v0.38 NDUFA12 Ellen McDonagh Marked gene: NDUFA12 as ready
Mitochondrial disorder with complex I deficiency v0.38 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.38 NDUFA12 Ellen McDonagh Publications for gene: NDUFA12 were set to
Mitochondrial disorder with complex I deficiency v0.37 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.37 NDUFA12 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 v0.37 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.36 NDUFA12 Carl Fratter reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: 21617257; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 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 v0.10 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.3 NDUFA12 Ivone Leong reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.2 NDUFA12 Ivone Leong gene: NDUFA12 was added
gene: NDUFA12 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA12 were set to ?Mitochondrial complex I deficiency, nuclear type 23, 618244