Genomics England
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Panels
Genes and Entities
PSMB10
proteasome subunit beta 10
OMIM:
176847
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Panel
Mode of inheritance
Details
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Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers:
R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proteasome-associated autoinflammatory syndrome 5, OMIM:619175