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| Fetal anomalies v3.111 | UQCRFS1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: UQCRFS1. Tag Q2_23_NHS_review was removed from gene: UQCRFS1. |
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| Fetal anomalies v3.111 | UQCRFS1 | Sarah Leigh reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.110 | UQCRFS1 |
Sarah Leigh Source Expert Review Green was added to UQCRFS1. Source NHS GMS was added to UQCRFS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v3.66 | UQCRFS1 | Arina Puzriakova Publications for gene: UQCRFS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.65 | UQCRFS1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: UQCRFS1. Tag Q2_23_NHS_review tag was added to gene: UQCRFS1. |
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| Fetal anomalies v3.8 | UQCRFS1 | Stephanie Allen commented on gene: UQCRFS1: 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 | UQCRFS1 | Stephanie Allen reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v3.7 | UQCRFS1 |
Arina Puzriakova gene: UQCRFS1 was added gene: UQCRFS1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRFS1 were set to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 |
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