Activity
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7 actions
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| Fetal anomalies v5.78 | SLC34A1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC34A1. Tag Q1_25_ promote_green was removed from gene: SLC34A1. |
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| Fetal anomalies v5.78 | SLC34A1 | Achchuthan Shanmugasundram edited their review of gene: SLC34A1: 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 | SLC34A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC34A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | SLC34A1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC34A1. Tag Q1_25_ promote_green tag was added to gene: SLC34A1. |
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| Fetal anomalies v5.16 | SLC34A1 | Achchuthan Shanmugasundram commented on gene: SLC34A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | SLC34A1 | Stephanie Allen reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9560283, 25050900, 12324554; Phenotypes: Infantile hypercalcemia-2, MIM#616963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | SLC34A1 |
Achchuthan Shanmugasundram gene: SLC34A1 was added gene: SLC34A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC34A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC34A1 were set to 9560283; 12324554; 25050900 Phenotypes for gene: SLC34A1 were set to Infantile hypercalcemia-2, OMIM:616963 |
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