Activity
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11 actions
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| Nephrocalcinosis or nephrolithiasis v4.19 | WDR72 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: WDR72. Tag Q1_23_NHS_review was removed from gene: WDR72. |
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| Nephrocalcinosis or nephrolithiasis v4.19 | WDR72 | Achchuthan Shanmugasundram reviewed gene: WDR72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v4.18 | WDR72 |
Achchuthan Shanmugasundram Source NHS GMS was added to WDR72. Source Expert Review Green was added to WDR72. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Nephrocalcinosis or nephrolithiasis v3.7 | WDR72 |
Eleanor Williams Tag Q1_23_promote_green tag was added to gene: WDR72. Tag Q1_23_NHS_review tag was added to gene: WDR72. |
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| Nephrocalcinosis or nephrolithiasis v3.7 | WDR72 | Eleanor Williams Phenotypes for gene: WDR72 were changed from distal renal tubular acidosis; amelogenesis imperfecta to distal renal tubular acidosis, MONDO:0015827; Amelogenesis imperfecta, type IIA3, OMIM:613211; amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v3.6 | WDR72 | Eleanor Williams Publications for gene: WDR72 were set to PMID: 30028003; 30779877; 31959358; 33033857 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v3.5 | WDR72 | Eleanor Williams Classified gene: WDR72 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v3.5 | WDR72 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a recommendation of green rating following GMS review. There are 5 cases with nephrocalcinosis reported and biallelic variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v3.5 | WDR72 | Eleanor Williams Gene: wdr72 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v3.4 | WDR72 | Eleanor Williams commented on gene: WDR72 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.40 | WDR72 |
Detlef Bockenhauer gene: WDR72 was added gene: WDR72 was added to Nephrocalcinosis or nephrolithiasis. Sources: Expert list Mode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR72 were set to PMID: 30028003; 30779877; 31959358; 33033857 Phenotypes for gene: WDR72 were set to distal renal tubular acidosis; amelogenesis imperfecta Penetrance for gene: WDR72 were set to Complete Review for gene: WDR72 was set to GREEN Added comment: Sources: Expert list |
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