Activity
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7 actions
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| Fetal anomalies v5.78 | PKDCC |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PKDCC. Tag Q1_25_ promote_green was removed from gene: PKDCC. |
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| Fetal anomalies v5.78 | PKDCC | Achchuthan Shanmugasundram edited their review of gene: PKDCC: 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 | PKDCC |
Achchuthan Shanmugasundram Source Expert Review Green was added to PKDCC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | PKDCC |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PKDCC. Tag Q1_25_ promote_green tag was added to gene: PKDCC. |
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| Fetal anomalies v5.16 | PKDCC | Achchuthan Shanmugasundram commented on gene: PKDCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | PKDCC | Sarah Graham reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30478137, 19097194; Phenotypes: Rhizomelic limb shortening with dysmorphic features, MIM#618821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | PKDCC |
Achchuthan Shanmugasundram gene: PKDCC was added gene: PKDCC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKDCC were set to 19097194; 30478137 Phenotypes for gene: PKDCC were set to Rhizomelic limb shortening with dysmorphic features, OMIM:618821 |
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