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| Fetal anomalies v3.14 | COA6 | Arina Puzriakova Publications for gene: COA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.13 | COA6 |
Arina Puzriakova Tag Q2_23_promote_green was removed from gene: COA6. Tag Q2_23_NHS_review was removed from gene: COA6. |
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| Fetal anomalies v3.13 | COA6 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: COA6. Tag Q2_23_NHS_review tag was added to gene: COA6. |
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| Fetal anomalies v3.8 | COA6 | Stephanie Allen commented on gene: COA6: 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 Amber gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.8 | COA6 | Stephanie Allen reviewed gene: COA6: Rating: AMBER; Mode of pathogenicity: ; Publications: 22277967, 25339201; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | COA6 |
Arina Puzriakova gene: COA6 was added gene: COA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA6 were set to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 |
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