Activity
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| Childhood interstitial lung disease v0.5 | PSMB9 | Achchuthan Shanmugasundram commented on gene: PSMB9: PSMB9 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.2 | PSMB9 | Achchuthan Shanmugasundram reviewed gene: PSMB9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: proteasome-associated autoinflammatory syndrome 6, MONDO:0968983, Proteasome-associated autoinflammatory syndrome 6, OMIM:620796; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | PSMB9 |
Achchuthan Shanmugasundram gene: PSMB9 was added gene: PSMB9 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PSMB9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PSMB9 were set to proteasome-associated autoinflammatory syndrome 6, MONDO:0968983; Proteasome-associated autoinflammatory syndrome 6, OMIM:620796 |
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