Activity
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9 actions
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| Fetal anomalies v6.121 | LSS |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LSS. Tag Q3_25_NHS_review was removed from gene: LSS. |
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| Fetal anomalies v6.120 | LSS | Achchuthan Shanmugasundram reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | LSS |
Arina Puzriakova Source Expert Review Green was added to LSS. Source NHS GMS was added to LSS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.56 | LSS | Arina Puzriakova Phenotypes for gene: LSS were changed from Cataract 44; Alopecia-intellectual disability syndrome 4 to Alopecia-intellectual disability syndrome 4, OMIM:618840; Cataract 44, OMIM:616509 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.55 | LSS |
Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LSS. Tag Q3_25_NHS_review tag was added to gene: LSS. |
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| Fetal anomalies v6.29 | LSS | Arina Puzriakova reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | LSS | Natalie Chandler commented on gene: LSS: 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 | LSS | Natalie Chandler reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39359128; Phenotypes: Alopecia-intellectual disability syndrome 4, Cataract 44; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | LSS |
Arina Puzriakova gene: LSS was added gene: LSS was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 39359128 Phenotypes for gene: LSS were set to Cataract 44; Alopecia-intellectual disability syndrome 4 |
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