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Fetal anomalies v3.111 | AGTR1 |
Sarah Leigh Tag Q2_23_promote_green was removed from gene: AGTR1. Tag Q2_23_NHS_review was removed from gene: AGTR1. |
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Fetal anomalies v3.111 | AGTR1 | Sarah Leigh reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.110 | AGTR1 |
Sarah Leigh Source Expert Review Green was added to AGTR1. Source NHS GMS was added to AGTR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Fetal anomalies v3.71 | AGTR1 | Arina Puzriakova Publications for gene: AGTR1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.70 | AGTR1 |
Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AGTR1. Tag Q2_23_NHS_review tag was added to gene: AGTR1. |
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Fetal anomalies v3.8 | AGTR1 | Stephanie Allen commented on gene: AGTR1: 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 | AGTR1 | Stephanie Allen reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v3.7 | AGTR1 |
Arina Puzriakova gene: AGTR1 was added gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, OMIM:267430 |