Activity
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7 actions
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| Fetal anomalies v5.78 | LAMA5 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LAMA5. Tag Q1_25_ promote_green was removed from gene: LAMA5. |
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| Fetal anomalies v5.78 | LAMA5 | Achchuthan Shanmugasundram edited their review of gene: LAMA5: 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 | LAMA5 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LAMA5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | LAMA5 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LAMA5. Tag Q1_25_ promote_green tag was added to gene: LAMA5. |
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| Fetal anomalies v5.16 | LAMA5 | Achchuthan Shanmugasundram commented on gene: LAMA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | LAMA5 | Sarah Graham reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32439764, 35419533, 35584218, 36714636, 37985485; Phenotypes: Nephrotic syndrome, type 26, MIM#620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | LAMA5 |
Achchuthan Shanmugasundram gene: LAMA5 was added gene: LAMA5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA5 were set to 32439764; 35584218; 35419533; 36714636; 37985485 Phenotypes for gene: LAMA5 were set to Nephrotic syndrome, type 26, OMIM:620049 |
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