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Mitochondrial disorder with complex V deficiency v2.15 ATP5J2 Arina Puzriakova Classified gene: ATP5J2 as Red List (low evidence)
Mitochondrial disorder with complex V deficiency v2.15 ATP5J2 Arina Puzriakova Gene: atp5j2 has been classified as Red List (Low Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5J2 Ellen McDonagh Marked gene: ATP5J2 as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.25 ATP5J Ellen McDonagh Marked gene: ATP5J as ready
Mitochondrial disorder with complex V deficiency v0.25 ATP5J 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 V deficiency v0.25 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.22 ATP5J2 Carl Fratter reviewed gene: ATP5J2: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.22 ATP5J Carl Fratter reviewed gene: ATP5J: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Classified gene: ATP5J as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.19 ATP5J 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 V deficiency v0.19 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Classified gene: ATP5J2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong Tag new-gene-name tag was added to gene: ATP5J2.
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong commented on gene: ATP5J2: ATP5J2 has a new gene name: ATP5MF
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong Tag new-gene-name tag was added to gene: ATP5J.
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong commented on gene: ATP5J: ATP5J has a new gene name: ATP5PF
Mitochondrial disorder with complex V deficiency v0.3 ATP5J Ivone Leong reviewed gene: ATP5J: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.3 ATP5J2 Ivone Leong reviewed gene: ATP5J2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Mitochondrial disorder with complex V deficiency v0.2 ATP5J Ivone Leong gene: ATP5J was added
gene: ATP5J was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J was set to Unknown
Phenotypes for gene: ATP5J were set to No OMIM phenotype
Mitochondrial disorder with complex V deficiency v0.2 ATP5J2 Ivone Leong gene: ATP5J2 was added
gene: ATP5J2 was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5J2 was set to Unknown
Phenotypes for gene: ATP5J2 were set to No OMIM phenotype