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Mitochondrial disorder with complex V deficiency v0.25 ATP5D Ellen McDonagh Classified gene: ATP5D as Green List (high evidence)
Mitochondrial disorder with complex V deficiency v0.25 ATP5D 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 V deficiency v0.25 ATP5D Ellen McDonagh Gene: atp5d has been classified as Green List (High Evidence).
Mitochondrial disorder with complex V deficiency v0.24 ATP5D Ellen McDonagh Publications for gene: ATP5D were set to
Mitochondrial disorder with complex V deficiency v0.22 ATP5D Carl Fratter reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Classified gene: ATP5D as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.8 ATP5D 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 V deficiency v0.8 ATP5D Ellen McDonagh Gene: atp5d has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong Tag new-gene-name tag was added to gene: ATP5D.
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong commented on gene: ATP5D: ATP5D has a new gene name: ATPF1D
Mitochondrial disorder with complex V deficiency v0.3 ATP5D Ivone Leong reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorder with complex V deficiency v0.2 ATP5D Ivone Leong gene: ATP5D was added
gene: ATP5D was added to Mitochondrial disorder with complex V deficiency. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120