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Mitochondrial disorder with complex IV deficiency v1.11 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387; spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Mitochondrial disorder with complex IV deficiency v0.41 COA7 Sarah Leigh Added comment: Comment on phenotypes: ?Mitochondrial complex IV deficiency, 220110 has been removed from this gene as COA7 is not associated with this phenotype.
Mitochondrial disorder with complex IV deficiency v0.41 COA7 Sarah Leigh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Marked gene: COA7 as ready
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Classified gene: COA7 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.37 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene was promoted from Amber to Green 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 COA7 Ellen McDonagh Gene: coa7 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.36 COA7 Ellen McDonagh Phenotypes for gene: COA7 were changed from ?Mitochondrial complex IV deficiency, 220110 to ?Mitochondrial complex IV deficiency, 220110; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387
Mitochondrial disorder with complex IV deficiency v0.35 COA7 Ellen McDonagh Publications for gene: COA7 were set to
Mitochondrial disorder with complex IV deficiency v0.31 COA7 Carl Fratter reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29718187, 27683825; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Classified gene: COA7 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently 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 v0.13 COA7 Ellen McDonagh Gene: coa7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.3 COA7 Ivone Leong reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex IV deficiency v0.2 COA7 Ivone Leong gene: COA7 was added
gene: COA7 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA7 were set to ?Mitochondrial complex IV deficiency, 220110