Activity
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8 actions
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| Fetal anomalies v6.121 | LGI3 |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LGI3. Tag Q3_25_NHS_review was removed from gene: LGI3. |
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| Fetal anomalies v6.120 | LGI3 | Achchuthan Shanmugasundram reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | LGI3 |
Arina Puzriakova Source Expert Review Green was added to LGI3. Source NHS GMS was added to LGI3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.55 | LGI3 |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LGI3. Tag Q3_25_NHS_review tag was added to gene: LGI3. |
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| Fetal anomalies v6.29 | LGI3 | Arina Puzriakova reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | LGI3 | Soo-Mi Park commented on gene: LGI3: 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 | LGI3 | Soo-Mi Park reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35948005; Phenotypes: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | LGI3 |
Arina Puzriakova gene: LGI3 was added gene: LGI3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI3 were set to 35948005 Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007 |
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