Genomics England

proteasome maturation protein

Panel	Mode of inheritance	Details
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Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Proteasome-associated autoinflammatory syndrome 2, OMIM:618048
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Proteasome-associated autoinflammatory syndrome 2, OMIM:618048, CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome), Combined immunodeficiency with autoinflammation