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| Fetal anomalies v3.111 | NDUFA6 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFA6. Tag Q2_23_NHS_review was removed from gene: NDUFA6. |
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| Fetal anomalies v3.111 | NDUFA6 | Sarah Leigh reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | NDUFA6 |
Sarah Leigh Source Expert Review Green was added to NDUFA6. Source NHS GMS was added to NDUFA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.33 | NDUFA6 | Arina Puzriakova Publications for gene: NDUFA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.32 | NDUFA6 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFA6. Tag Q2_23_NHS_review tag was added to gene: NDUFA6. |
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| Fetal anomalies v3.8 | NDUFA6 | Stephanie Allen commented on gene: NDUFA6: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca 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 | NDUFA6 | Stephanie Allen reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | NDUFA6 |
Arina Puzriakova gene: NDUFA6 was added gene: NDUFA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 |
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