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Mitochondrial disorder with complex I deficiency v2.3 NDUFA13 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA13.
Tag Q3_22_NHS_review was removed from gene: NDUFA13.
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 NDUFA13 Achchuthan Shanmugasundram reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 NDUFA13 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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 v1.22 NDUFA13 Arina Puzriakova Phenotypes for gene: NDUFA13 were changed from ?Mitochondrial complex I deficiency, nuclear type 28, 618249 to Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249
Mitochondrial disorder with complex I deficiency v1.21 NDUFA13 Arina Puzriakova Publications for gene: NDUFA13 were set to 25901006
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 NDUFA13 Arina Puzriakova commented on gene: NDUFA13: 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 v1.17 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 NDUFA13 Arina Puzriakova reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: 25901006, 32722639; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, OMIM: 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
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 NDUFA13 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA13.
Tag Q3_22_NHS_review tag was added to gene: NDUFA13.
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 v0.40 NDUFA13 Ellen McDonagh Marked gene: NDUFA13 as ready
Mitochondrial disorder with complex I deficiency v0.40 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.40 NDUFA13 Ellen McDonagh Publications for gene: NDUFA13 were set to
Mitochondrial disorder with complex I deficiency v0.39 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.39 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
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 Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.36 NDUFA13 Carl Fratter reviewed gene: NDUFA13: Rating: AMBER; Mode of pathogenicity: ; Publications: 25901006; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v0.11 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.11 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
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 Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.3 NDUFA13 Ivone Leong reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 28, 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
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 v0.3 NDUFA11 Ivone Leong reviewed gene: NDUFA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, 618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA10 Ivone Leong reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v0.3 NDUFA1 Ivone Leong reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorder with complex I deficiency v0.2 NDUFA13 Ivone Leong gene: NDUFA13 was added
gene: NDUFA13 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA13 were set to ?Mitochondrial complex I deficiency, nuclear type 28, 618249
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
Mitochondrial disorder with complex I deficiency v0.2 NDUFA11 Ivone Leong gene: NDUFA11 was added
gene: NDUFA11 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236
Mitochondrial disorder with complex I deficiency v0.2 NDUFA10 Ivone Leong gene: NDUFA10 was added
gene: NDUFA10 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Mitochondrial complex I deficiency, nuclear type 22, 618243
Mitochondrial disorder with complex I deficiency v0.2 NDUFA1 Ivone Leong gene: NDUFA1 was added
gene: NDUFA1 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, nuclear type 12, 301020