Activity
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8 actions
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| Fetal anomalies v5.80 | WDR44 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR44. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | WDR44 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WDR44. Tag Q1_25_ promote_green was removed from gene: WDR44. |
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| Fetal anomalies v5.78 | WDR44 | Achchuthan Shanmugasundram edited their review of gene: WDR44: 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, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | WDR44 |
Achchuthan Shanmugasundram Source Expert Review Green was added to WDR44. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | WDR44 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WDR44. Tag Q1_25_ promote_green tag was added to gene: WDR44. |
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| Fetal anomalies v5.16 | WDR44 | Achchuthan Shanmugasundram commented on gene: WDR44 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | WDR44 | Vicki Harrison reviewed gene: WDR44: Rating: GREEN; Mode of pathogenicity: ; Publications: 38191484; Phenotypes: Ciliopathy, MONDO:0005308, WDR44-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | WDR44 |
Achchuthan Shanmugasundram gene: WDR44 was added gene: WDR44 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: WDR44 were set to 38191484 Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related |
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