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Possible mitochondrial disorder, nuclear genes v2.5 UQCRC2 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: UQCRC2.
Tag Q3_22_NHS_review was removed from gene: UQCRC2.
Possible mitochondrial disorder, nuclear genes v2.5 UQCRC2 Achchuthan Shanmugasundram reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.4 UQCRC2 Achchuthan Shanmugasundram Source Expert Review Green was added to UQCRC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v1.159 UQCRC2 Arina Puzriakova Publications for gene: UQCRC2 were set to 28275242; 23281071
Possible mitochondrial disorder, nuclear genes v1.158 UQCRC2 Arina Puzriakova Phenotypes for gene: UQCRC2 were changed from Mitochondrial complex III deficiency, nuclear type 5, 615160 to Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160
Possible mitochondrial disorder, nuclear genes v1.105 UQCRC2 Arina Puzriakova reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23281071, 33865955, 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM: 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder, nuclear genes v1.97 UQCRC2 Arina Puzriakova Tag Q3_22_rating tag was added to gene: UQCRC2.
Tag Q3_22_NHS_review tag was added to gene: UQCRC2.
Possible mitochondrial disorder, nuclear genes v0.134 UQCRC2 Carl Fratter reviewed gene: UQCRC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28275242, 23281071; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.79 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.79 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: Two unrelated cases/families have been reported, though for the same missense variant.
Possible mitochondrial disorder, nuclear genes v0.79 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.78 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to
Possible mitochondrial disorder, nuclear genes v0.77 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.77 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder, nuclear genes v0.77 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 UQCRC2 Ivone Leong reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, 615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.4 UQCRC2 Ivone Leong gene: UQCRC2 was added
gene: UQCRC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160