Activity
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| Fetal anomalies v5.78 | NLRP3 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NLRP3. Tag Q1_25_ promote_green was removed from gene: NLRP3. |
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| Fetal anomalies v5.78 | NLRP3 | Achchuthan Shanmugasundram edited their review of gene: NLRP3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | NLRP3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NLRP3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | NLRP3 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NLRP3. Tag Q1_25_ promote_green tag was added to gene: NLRP3. |
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| Fetal anomalies v5.16 | NLRP3 | Achchuthan Shanmugasundram commented on gene: NLRP3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | NLRP3 | Samantha Doyle reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CINCA syndrome, MIM#607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | NLRP3 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to NLRP3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v4.36 | NLRP3 | Achchuthan Shanmugasundram commented on gene: NLRP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | NLRP3 | Esther Kinning reviewed gene: NLRP3: Rating: RED; Mode of pathogenicity: ; Publications: 12928894, 12483741, 12032915; Phenotypes: CINCA syndrome, OMIM:607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | NLRP3 |
Achchuthan Shanmugasundram gene: NLRP3 was added gene: NLRP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 12928894; 12483741; 12032915 Phenotypes for gene: NLRP3 were set to CINCA syndrome, OMIM:607115 |
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