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Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh commented on gene: COX4I1: Comment from NHS Genomic Medicine Service: patients have Leigh syndrome like brain lesions and encephalopathy as well as lactic acidosis and decreased mitochondrial respiratory chain complex IV in tissue.
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh Tag for-review was removed from gene: COX4I1.
Tag Q2_21_rating was removed from gene: COX4I1.
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh commented on gene: COX4I1
Mitochondrial disorder with complex IV deficiency v1.13 COX4I1 Sarah Leigh Source Expert Review Green was added to COX4I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v1.12 COX4I1 Ivone Leong Tag Q2_21_rating tag was added to gene: COX4I1.
Mitochondrial disorder with complex IV deficiency v1.10 COX4I1 Ivone Leong commented on gene: COX4I1: This gene is associated with a relevant phenotype in OMIM and not Gene2Phenotype. Based on the fact that there are now 2 unrelated cases and functional studies there is enough evidence for this gene to be Green.
Mitochondrial disorder with complex IV deficiency v1.10 COX4I1 Ivone Leong Tag for-review tag was added to gene: COX4I1.
Mitochondrial disorder with complex IV deficiency v1.10 COX4I1 Ivone Leong Phenotypes for gene: COX4I1 were changed from No OMIM phenotype to Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060
Mitochondrial disorder with complex IV deficiency v1.9 COX4I1 Ivone Leong Publications for gene: COX4I1 were set to 28766551
Mitochondrial disorder with complex IV deficiency v1.8 COX4I1 Carl Fratter edited their review of gene: COX4I1: Added comment: GMS to consider whether there is now sufficient evidence for this gene to be green; Changed publications: 28766551, 31290619; Changed phenotypes: OMIM #619060
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Marked gene: COX4I1 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COX4I1 Ellen McDonagh Added comment: Comment when marking as ready: 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 IV deficiency v0.37 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.31 COX4I1 Carl Fratter reviewed gene: COX4I1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Classified gene: COX4I1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 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 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.3 COX4I1 Ivone Leong reviewed gene: COX4I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28766551; Phenotypes: No OMIM phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.2 COX4I1 Ivone Leong gene: COX4I1 was added
gene: COX4I1 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to No OMIM phenotype