Genomics England

proteasome subunit beta 8

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Green in Childhood interstitial lung disease R-numbers: R462 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes proteasome-associated autoinflammatory syndrome 1, MONDO:0054698, Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NAKAJO SYNDROME 256040
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040, Autoinflammation, lipodystrophy, and dermatosis syndrome, Contractures, panniculitis, ICC, fevers, Autoinflammatory Disorders, CANDLE syndrome
Green in Severe insulin resistance and lipodystrophy syndromes R-numbers: R158 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040