Activity
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13 actions
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| Fetal anomalies v6.121 | NR2F1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NR2F1. Tag Q3_25_NHS_review was removed from gene: NR2F1. |
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| Fetal anomalies v6.120 | NR2F1 | Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | NR2F1 |
Arina Puzriakova Source Expert Review Green was added to NR2F1. Source NHS GMS was added to NR2F1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.61 | NR2F1 | Arina Puzriakova Phenotypes for gene: NR2F1 were changed from BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME; Bosch-Boonstra-Schaaf optic atrophy syndrome to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.60 | NR2F1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: NR2F1. Tag Q3_25_NHS_review tag was added to gene: NR2F1. |
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| Fetal anomalies v6.29 | NR2F1 | Arina Puzriakova reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | NR2F1 | Soo-Mi Park commented on gene: NR2F1: 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 | NR2F1 | Soo-Mi Park reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31318166, 32712214, 36221391, 32484994, 40066675; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | NR2F1 |
Arina Puzriakova Source Expert Review Amber was added to NR2F1. Mode of inheritance for gene NR2F1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome for gene: NR2F1 Publications for gene: NR2F1 were updated from to 40066675; 32712214; 31318166; 36221391; 32484994 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.135 | NR2F1 |
Rebecca Foulger Source Expert Review Red was added to NR2F1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | NR2F1 | Rebecca Foulger edited their review of gene: NR2F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NR2F1 gene rating from Green to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | NR2F1 | Rebecca Foulger reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | NR2F1 |
Rebecca Foulger gene: NR2F1 was added gene: NR2F1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME |
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