Activity
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10 actions
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| Skeletal ciliopathies v4.3 | PMM2 |
Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: PMM2. Tag Q3_23_demote_red was removed from gene: PMM2. |
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| Skeletal ciliopathies v4.3 | PMM2 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to redfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.3 | PMM2 | Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v4.2 | PMM2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to PMM2. Source NHS GMS was added to PMM2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Skeletal ciliopathies v3.9 | PMM2 | Eleanor Williams Tag Q3_23_expert_review tag was added to gene: PMM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.9 | PMM2 | Eleanor Williams Tag Q3_23_demote_red tag was added to gene: PMM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v3.9 | PMM2 | Eleanor Williams commented on gene: PMM2: After reviewing the literature no patients were found with a skeletal phenotype so demotion to red on this panel is recommended. This has been confirmed with a Genomics England clinician. It is represented on the other ciliopathy panels, so shouldn't be missed for relevant phenotypes. It was initially added as a ciliopathy mimic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v1.3 | PMM2 | Zornitza Stark reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia, MIM# 212065; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.19 | PMM2 | Eleanor Williams commented on gene: PMM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal ciliopathies v0.1 | PMM2 |
Eleanor Williams gene: PMM2 was added gene: PMM2 was added to Skeletal ciliopathies. Sources: Literature,Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 9140401 Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065 |
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