Activity
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12 actions
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| Likely inborn error of metabolism v6.10 | PIGW | Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: PIGW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.10 | PIGW | Achchuthan Shanmugasundram commented on gene: PIGW: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v6.9 | PIGW |
Achchuthan Shanmugasundram Source NHS GMS was added to PIGW. Source Expert Review Green was added to PIGW. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v5.9 | PIGW | Achchuthan Shanmugasundram Classified gene: PIGW as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.9 | PIGW | Achchuthan Shanmugasundram Gene: pigw has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.9 | PIGW | Achchuthan Shanmugasundram Classified gene: PIGW as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.9 | PIGW | Achchuthan Shanmugasundram Gene: pigw has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.9 | PIGW | Achchuthan Shanmugasundram Classified gene: PIGW as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.9 | PIGW | Achchuthan Shanmugasundram Gene: pigw has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.8 | PIGW | Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PIGW. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v5.8 | PIGW | Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025, hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.4 | PIGW |
Ellen McDonagh gene: PIGW was added gene: PIGW was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGW were set to 24367057 Phenotypes for gene: PIGW were set to ?Hyperphosphatasia with mental retardation syndrome 5 |
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