Activity
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9 actions
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| Fetal anomalies v6.120 | ARL2BP |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ARL2BP. Tag Q3_25_NHS_review was removed from gene: ARL2BP. |
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| Fetal anomalies v6.120 | ARL2BP | Achchuthan Shanmugasundram reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | ARL2BP |
Arina Puzriakova Source Expert Review Green was added to ARL2BP. Source NHS GMS was added to ARL2BP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.34 | ARL2BP |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ARL2BP. Tag Q3_25_NHS_review tag was added to gene: ARL2BP. |
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| Fetal anomalies v6.34 | ARL2BP | Arina Puzriakova Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434; Situs Inversus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.29 | ARL2BP | Arina Puzriakova reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | ARL2BP | Vicki Harrison commented on gene: ARL2BP: 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 | ARL2BP | Vicki Harrison reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 36507858, 40384762, 38649918, 23849777, 27790702; Phenotypes: Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | ARL2BP |
Arina Puzriakova gene: ARL2BP was added gene: ARL2BP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL2BP were set to 27790702; 36507858; 23849777; 38649918; 40384762 Phenotypes for gene: ARL2BP were set to Situs Inversus |
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