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Likely inborn error of metabolism - targeted testing not possible v3.6 ATP5A1 Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v3.6 ATP5A1 Achchuthan Shanmugasundram reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Likely inborn error of metabolism - targeted testing not possible v3.5 ATP5A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v2.267 ATP5A1 Arina Puzriakova Publications for gene: ATP5A1 were set to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Likely inborn error of metabolism - targeted testing not possible v2.266 ATP5A1 Arina Puzriakova Phenotypes for gene: ATP5A1 were changed from ?Combined oxidative phosphorylation deficiency 22; Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228; Combined oxidative phosphorylation deficiency 22, OMIM: 616045
Likely inborn error of metabolism - targeted testing not possible v2.265 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
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5A1 Arina Puzriakova Tag Q3_22_MOI was removed from gene: ATP5A1.
Tag Q3_22_rating tag was added to gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5A1 Arina Puzriakova Tag Q3_22_MOI tag was added to gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v2.264 ATP5A1 Arina Puzriakova Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism - targeted testing not possible v1.311 ATP5A1 Sarah Leigh changed review comment from: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys mentioned in this article have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Likely inborn error of metabolism - targeted testing not possible v1.243 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Amber List (moderate evidence)
Likely inborn error of metabolism - targeted testing not possible v1.243 ATP5A1 Sarah Leigh Added comment: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Likely inborn error of metabolism - targeted testing not possible v1.243 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5A1 Louise Daugherty commented on gene: ATP5A1
Likely inborn error of metabolism - targeted testing not possible v1.54 ATP5A1 Louise Daugherty Tag new-gene-name tag was added to gene: ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v1.47 ATP5A1 Ivone Leong Source NHS GMS was added to ATP5A1.
Source London North GLH was added to ATP5A1.
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP5A1 Ellen McDonagh Added phenotypes ?Combined oxidative phosphorylation deficiency 22; ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 for gene: ATP5A1
Publications for gene ATP5A1 were changed from 27604308 to PMID: 23599390 (two siblings with a severe neonatal encephalopathy caused by complex V deficiency); PMID: 23596069 (newborn female with failure to thrive, microcephaly, encephalopathy, IUGR, hypotonia, bacteremia, pulmonary hypertension, heart failure, and mitchondrial depletion).
Likely inborn error of metabolism - targeted testing not possible v0.4 ATP5A1 Ellen McDonagh gene: ATP5A1 was added
gene: ATP5A1 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: ATP5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5A1 were set to 27604308
Phenotypes for gene: ATP5A1 were set to Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4 615228; ?Combined oxidative phosphorylation deficiency 22 616045