Activity
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10 actions
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| Autoinflammatory disorders v2.34 | POMP |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: POMP. Tag Q2_25_ NHS_review was removed from gene: POMP. |
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| Autoinflammatory disorders v2.34 | POMP | Achchuthan Shanmugasundram reviewed gene: POMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.33 | POMP |
Achchuthan Shanmugasundram Source NHS GMS was added to POMP. Source Expert Review Green was added to POMP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Autoinflammatory disorders v2.20 | POMP | Arina Puzriakova Classified gene: POMP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.20 | POMP | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. At least 4 unrelated cases with neonatal onset inflammatory disease and heterozygous LOF variants in the POMP gene (PMID: 26524591; 29805043; 38111302) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.20 | POMP | Arina Puzriakova Gene: pomp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.19 | POMP |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: POMP. Tag Q2_25_ NHS_review tag was added to gene: POMP. |
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| Autoinflammatory disorders v2.19 | POMP | Arina Puzriakova Publications for gene: POMP were set to PMID: 38111302; PMID: 29805043 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.18 | POMP | Arina Puzriakova Phenotypes for gene: POMP were changed from Proteasome-associated autoinflammatory syndrome 2 to Proteasome-associated autoinflammatory syndrome 2, OMIM:618048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | POMP |
Dorota Rowczenio gene: POMP was added gene: POMP was added to Autoinflammatory disorders. Sources: Expert Review,Literature,Research,ClinGen Mode of inheritance for gene: POMP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POMP were set to PMID: 38111302; PMID: 29805043 Phenotypes for gene: POMP were set to Proteasome-associated autoinflammatory syndrome 2 Review for gene: POMP was set to GREEN Added comment: Sources: Expert Review, Literature, Research, ClinGen |
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