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Possible mitochondrial disorder, nuclear genes v2.5 ATP5G3 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5G3.
Tag Q3_22_NHS_review was removed from gene: ATP5G3.
Possible mitochondrial disorder, nuclear genes v2.5 ATP5G3 Achchuthan Shanmugasundram reviewed gene: ATP5G3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.4 ATP5G3 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5G3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v1.110 ATP5G3 Arina Puzriakova Mode of inheritance for gene: ATP5G3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder, nuclear genes v1.109 ATP5G3 Arina Puzriakova Publications for gene: ATP5G3 were set to
Possible mitochondrial disorder, nuclear genes v1.108 ATP5G3 Arina Puzriakova Phenotypes for gene: ATP5G3 were changed from No OMIM phenotype to Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681
Possible mitochondrial disorder, nuclear genes v1.99 ATP5G3 Arina Puzriakova edited their review of gene: ATP5G3: Added comment: Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.; Changed rating: GREEN; Changed publications to: 34636445, 34954817; Changed phenotypes to: Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes
Possible mitochondrial disorder, nuclear genes v1.95 ATP5G3 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5G3.
Tag Q3_22_NHS_review tag was added to gene: ATP5G3.
Possible mitochondrial disorder, nuclear genes v1.95 ATP5G3 Arina Puzriakova commented on gene: ATP5G3
Possible mitochondrial disorder, nuclear genes v0.137 ATP5G3 Ellen McDonagh Marked gene: ATP5G3 as ready
Possible mitochondrial disorder, nuclear genes v0.137 ATP5G3 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.
Possible mitochondrial disorder, nuclear genes v0.137 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.134 ATP5G3 Carl Fratter reviewed gene: ATP5G3: Rating: AMBER; Mode of pathogenicity: ; Publications: none found; Phenotypes: No OMIM phenotype; Mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.27 ATP5G3 Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.27 ATP5G3 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.
Possible mitochondrial disorder, nuclear genes v0.27 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 ATP5G3 Ivone Leong edited their review of gene: ATP5G3: Added comment: Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.; Changed rating: GREEN; Changed phenotypes: No OMIM phenotype; Changed mode of inheritance: Unknown
Possible mitochondrial disorder, nuclear genes v0.2 ATP5G3 Ivone Leong commented on gene: ATP5G3
Possible mitochondrial disorder, nuclear genes v0.2 ATP5G3 Ivone Leong Tag new-gene-name tag was added to gene: ATP5G3.
Possible mitochondrial disorder, nuclear genes v0.2 ATP5G3 Ivone Leong gene: ATP5G3 was added
gene: ATP5G3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5G3 was set to Unknown
Phenotypes for gene: ATP5G3 were set to No OMIM phenotype