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Mitochondrial disorder with complex I deficiency v2.3 NDUFA8 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NDUFA8.
Tag Q3_22_NHS_review was removed from gene: NDUFA8.
Mitochondrial disorder with complex I deficiency v2.3 NDUFA8 Achchuthan Shanmugasundram reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorder with complex I deficiency v2.2 NDUFA8 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex I deficiency v1.26 NDUFA8 Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272 to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272
Mitochondrial disorder with complex I deficiency v1.25 NDUFA8 Arina Puzriakova Phenotypes for gene: NDUFA8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272
Mitochondrial disorder with complex I deficiency v1.24 NDUFA8 Arina Puzriakova Publications for gene: NDUFA8 were set to 15576045
Mitochondrial disorder with complex I deficiency v1.23 NDUFA8 Arina Puzriakova Mode of inheritance for gene: NDUFA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex I deficiency v1.17 NDUFA8 Arina Puzriakova commented on gene: NDUFA8: 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 NDUFA8 Arina Puzriakova reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: 33153867, 32385911; Phenotypes: Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorder with complex I deficiency v1.15 NDUFA8 Arina Puzriakova Tag Q3_22_rating tag was added to gene: NDUFA8.
Tag Q3_22_NHS_review tag was added to gene: NDUFA8.
Mitochondrial disorder with complex I deficiency v0.47 NDUFA8 Ellen McDonagh Marked gene: NDUFA8 as ready
Mitochondrial disorder with complex I deficiency v0.47 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.47 NDUFA8 Ellen McDonagh Publications for gene: NDUFA8 were set to
Mitochondrial disorder with complex I deficiency v0.46 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.46 NDUFA8 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 v0.46 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.36 NDUFA8 Carl Fratter reviewed gene: NDUFA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 15576045; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 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 v0.16 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.3 NDUFA8 Ivone Leong reviewed gene: NDUFA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex I deficiency v0.2 NDUFA8 Ivone Leong gene: NDUFA8 was added
gene: NDUFA8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NDUFA8 was set to Unknown
Phenotypes for gene: NDUFA8 were set to No OMIM phenotype