POMP

proteasome maturation protein
OMIM: 613386
PanelMode of inheritanceDetails
2 panels
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
R-numbers: R15
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome), Proteasome-associated autoinflammatory syndrome 2, 618048, combined immunodeficiency with autoinflammation