Activity
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| Lipodystrophy - childhood onset v4.64 | PLA2G16 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: PLA2G16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.64 | PLA2G16 | Achchuthan Shanmugasundram reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.63 | PLA2G16 |
Arina Puzriakova Source NHS GMS was added to PLA2G16. Source Expert Review Green was added to PLA2G16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Lipodystrophy - childhood onset v4.60 | PLA2G16 | Eleanor Williams Tag Q3_24_NHS_review was removed from gene: PLA2G16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.60 | PLA2G16 | Eleanor Williams Classified gene: PLA2G16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.60 | PLA2G16 | Eleanor Williams Added comment: Comment on list classification: Rating as amber but with a recommendation for green rating following GMS review. 4 cases with 3 different variants in PLA2G16/PLAAT3 and a consistent phenotype that includes lipoatrophy and insulin resistance with childhood onset of symptoms. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.60 | PLA2G16 | Eleanor Williams Gene: pla2g16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.59 | PLA2G16 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.59 | PLA2G16 | Eleanor Williams Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.59 | PLA2G16 | Eleanor Williams changed review comment from: Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes peripheral neuropathy.; to: Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes lipodystrophy and insulin resistance with childhood onset. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.56 | PLA2G16 | Eleanor Williams Entity copied from Hereditary neuropathy or pain disorder v6.19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lipodystrophy - childhood onset v4.56 | PLA2G16 |
Eleanor Williams gene: PLA2G16 was added gene: PLA2G16 was added to Lipodystrophy - childhood onset. Sources: Expert list,Expert Review Amber new-gene-name, Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: PLA2G16. Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G16 were set to 37919452 Phenotypes for gene: PLA2G16 were set to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034 |
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