Activity
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7 actions
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| Fetal anomalies v5.78 | TONSL |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TONSL. Tag Q1_25_ promote_green was removed from gene: TONSL. |
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| Fetal anomalies v5.78 | TONSL | Achchuthan Shanmugasundram edited their review of gene: TONSL: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | TONSL |
Achchuthan Shanmugasundram Source Expert Review Green was added to TONSL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | TONSL |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TONSL. Tag Q1_25_ promote_green tag was added to gene: TONSL. |
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| Fetal anomalies v5.16 | TONSL | Achchuthan Shanmugasundram commented on gene: TONSL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | TONSL | Sarah Graham reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 32959051, 30773277, 30773278; Phenotypes: Spondyloepimetaphyseal dysplasia, sponastrime type, MIM#271510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | TONSL |
Achchuthan Shanmugasundram gene: TONSL was added gene: TONSL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TONSL were set to 32959051; 30773278; 30773277 Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510 |
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