Activity
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| Fetal anomalies v4.192 | SCN5A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN5A. Tag Q3_24_NHS_review was removed from gene: SCN5A. |
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| Fetal anomalies v4.192 | SCN5A | Achchuthan Shanmugasundram commented on gene: SCN5A: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | SCN5A |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCN5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.91 | SCN5A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN5A. Tag Q3_24_NHS_review tag was added to gene: SCN5A. |
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| Fetal anomalies v4.36 | SCN5A | Achchuthan Shanmugasundram commented on gene: SCN5A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. 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, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | SCN5A | Achchuthan Shanmugasundram reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19419784, 22064211, 15184283; Phenotypes: Sudden infant death syndrome, susceptibility to - #272120, Long QT syndrome 3 - #603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | SCN5A |
Achchuthan Shanmugasundram gene: SCN5A was added gene: SCN5A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to 19419784; 22064211; 15184283 Phenotypes for gene: SCN5A were set to {Sudden infant death syndrome, susceptibility to}, OMIM:272120; Long QT syndrome 3, OMIM:603830 |
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