Activity
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9 actions
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| Fetal anomalies v6.121 | EFL1 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EFL1. Tag Q3_25_NHS_review was removed from gene: EFL1. |
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| Fetal anomalies v6.120 | EFL1 | Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | EFL1 |
Arina Puzriakova Source Expert Review Green was added to EFL1. Source NHS GMS was added to EFL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.45 | EFL1 | Arina Puzriakova Phenotypes for gene: EFL1 were changed from Shwachman-Diamond syndrome 2 to Shwachman-Diamond syndrome 2, OMIM:617941 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.44 | EFL1 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EFL1. Tag Q3_25_NHS_review tag was added to gene: EFL1. |
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| Fetal anomalies v6.29 | EFL1 | Arina Puzriakova reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | EFL1 | Esther Kinning commented on gene: EFL1: 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 | EFL1 | Esther Kinning reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 34115847, 28331068; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | EFL1 |
Arina Puzriakova gene: EFL1 was added gene: EFL1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 28331068; 31151987; 34115847; 29970384 Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2 |
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