Activity
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| Fetal anomalies v5.78 | KCNK3 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KCNK3. Tag Q1_25_ promote_green was removed from gene: KCNK3. |
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| Fetal anomalies v5.78 | KCNK3 | Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: 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.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | KCNK3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | KCNK3 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KCNK3. Tag Q1_25_ promote_green tag was added to gene: KCNK3. |
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| Fetal anomalies v5.16 | KCNK3 | Achchuthan Shanmugasundram commented on gene: KCNK3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | KCNK3 | Natalie Chandler reviewed gene: KCNK3: 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: 36195757; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | KCNK3 |
Achchuthan Shanmugasundram gene: KCNK3 was added gene: KCNK3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNK3 were set to 36195757 Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related Mode of pathogenicity for gene: KCNK3 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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