Activity
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13 actions
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| Fetal anomalies v6.120 | COQ2 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COQ2. Tag Q3_25_NHS_review was removed from gene: COQ2. |
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| Fetal anomalies v6.120 | COQ2 | Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | COQ2 |
Arina Puzriakova Source Expert Review Green was added to COQ2. Source NHS GMS was added to COQ2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.41 | COQ2 | Arina Puzriakova Phenotypes for gene: COQ2 were changed from COENZYME Q10 DEFICIENCY; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.40 | COQ2 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COQ2. Tag Q3_25_NHS_review tag was added to gene: COQ2. |
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| Fetal anomalies v6.29 | COQ2 | Arina Puzriakova reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | COQ2 | Anna de Burca commented on gene: COQ2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | COQ2 | Anna de Burca reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Coenzyme Q10 deficiency, primary, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | COQ2 |
Arina Puzriakova Source Expert Review Amber was added to COQ2. Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2 Publications for gene: COQ2 were updated from to 39763161 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.311 | COQ2 | Rebecca Foulger edited their review of gene: COQ2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 23816342 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.310 | COQ2 |
Rebecca Foulger Source Expert Review Red was added to COQ2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | COQ2 | Rebecca Foulger reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | COQ2 |
Rebecca Foulger gene: COQ2 was added gene: COQ2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY |
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