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Possible mitochondrial disorder, nuclear genes v2.5 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Tag Q3_22_NHS_review was removed from gene: ATP5A1.
Possible mitochondrial disorder, nuclear genes v2.5 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Possible mitochondrial disorder, nuclear genes v2.4 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Possible mitochondrial disorder, nuclear genes v1.107 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Possible mitochondrial disorder, nuclear genes v1.106 ATP5A1 Arina Puzriakova Publications for gene: ATP5A1 were set to 23596069; 23599390
Possible mitochondrial disorder, nuclear genes v1.99 ATP5A1 Arina Puzriakova commented on gene: ATP5A1: 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. MOI has also been updated from biallelic to both mono- and biallelic inline with this review.
Possible mitochondrial disorder, nuclear genes v1.98 ATP5A1 Arina Puzriakova reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34483339, 23596069, 23599390, 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228, Combined oxidative phosphorylation deficiency 22, OMIM: 616045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Possible mitochondrial disorder, nuclear genes v1.95 ATP5A1 Arina Puzriakova Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v1.94 ATP5A1 Arina Puzriakova Tag Q3_22_rating tag was added to gene: ATP5A1.
Tag Q3_22_NHS_review tag was added to gene: ATP5A1.
Possible mitochondrial disorder, nuclear genes v1.60 ATP5A1 Zornitza Stark reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonaemia, lactic acidaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder, nuclear genes v1.2 ATP5A1 Sarah Leigh reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Possible mitochondrial disorder, nuclear genes v0.206 ATP5A1 Ellen McDonagh Deleted their comment
Possible mitochondrial disorder, nuclear genes v0.206 ATP5A1 Ellen McDonagh Deleted their comment
Possible mitochondrial disorder, nuclear genes v0.206 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises.
Possible mitochondrial disorder, nuclear genes v0.206 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises.
Possible mitochondrial disorder, nuclear genes v0.197 ATP5A1 Ellen McDonagh Added comment: Comment on publications: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression.
Possible mitochondrial disorder, nuclear genes v0.197 ATP5A1 Ellen McDonagh Publications for gene: ATP5A1 were set to 23596069; 23599390
Possible mitochondrial disorder, nuclear genes v0.196 ATP5A1 Ellen McDonagh Added comment: Comment on publications: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression.
Possible mitochondrial disorder, nuclear genes v0.196 ATP5A1 Ellen McDonagh Publications for gene: ATP5A1 were set to 23596069; 23599390
Possible mitochondrial disorder, nuclear genes v0.191 ATP5A1 Sarah Leigh Publications for gene: ATP5A1 were set to
Possible mitochondrial disorder, nuclear genes v0.134 ATP5A1 Carl Fratter reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23596069, 23599390; Phenotypes: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.18 ATP5A1 Ellen McDonagh Classified gene: ATP5A1 as Amber List (moderate evidence)
Possible mitochondrial disorder, nuclear genes v0.18 ATP5A1 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 v0.18 ATP5A1 Ellen McDonagh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v0.5 ATP5A1 Ivone Leong edited their review of gene: ATP5A1: 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: ?Combined oxidative phosphorylation deficiency 22, 616045, ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder, nuclear genes v0.2 ATP5A1 Ivone Leong Tag new-gene-name tag was added to gene: ATP5A1.
Possible mitochondrial disorder, nuclear genes v0.2 ATP5A1 Ivone Leong commented on gene: ATP5A1
Possible mitochondrial disorder, nuclear genes v0.2 ATP5A1 Ivone Leong gene: ATP5A1 was added
gene: ATP5A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP5A1 were set to ?Combined oxidative phosphorylation deficiency 22, 616045; ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228