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| Fetal anomalies v3.111 | ATP5O |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O. Tag Q2_23_NHS_review was removed from gene: ATP5O. |
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| Fetal anomalies v3.111 | ATP5O | Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | ATP5O |
Sarah Leigh Source Expert Review Green was added to ATP5O. Source NHS GMS was added to ATP5O. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.98 | ATP5O | Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.11 | ATP5O |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O. |
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| Fetal anomalies v3.11 | ATP5O |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: ATP5O. Tag Q2_23_NHS_review was removed from gene: ATP5O. Tag new-gene-name tag was added to gene: ATP5O. |
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| Fetal anomalies v3.11 | ATP5O | Arina Puzriakova Publications for gene: ATP5O were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.10 | ATP5O |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ATP5O. Tag Q2_23_NHS_review tag was added to gene: ATP5O. |
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| Fetal anomalies v3.8 | ATP5O | Stephanie Allen commented on gene: ATP5O: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.8 | ATP5O | Stephanie Allen reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: 35621276; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | ATP5O |
Arina Puzriakova gene: ATP5O was added gene: ATP5O was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency |
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