Activity
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| Fetal anomalies v5.78 | PLS3 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PLS3. Tag Q1_25_ promote_green was removed from gene: PLS3. |
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| Fetal anomalies v5.78 | PLS3 | Achchuthan Shanmugasundram edited their review of gene: PLS3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | PLS3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLS3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | PLS3 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PLS3. Tag Q1_25_ promote_green tag was added to gene: PLS3. |
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| Fetal anomalies v5.16 | PLS3 | Achchuthan Shanmugasundram commented on gene: PLS3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | PLS3 | Sarah Graham reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24088043, 37751738, 29736964, 25209159, 32655496, 28777485, 29884797; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM#306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | PLS3 |
Achchuthan Shanmugasundram gene: PLS3 was added gene: PLS3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PLS3 were set to 32655496; 28777485; 29736964; 37751738; 25209159; 29884797; 24088043 Phenotypes for gene: PLS3 were set to Diaphragmatic hernia 5, X-linked, OMIM:306950 Mode of pathogenicity for gene: PLS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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