Genomics England
GMS Panels
Panels
Genes and Entities

POMP

proteasome maturation protein
OMIM: 613386
PanelMode of inheritanceDetails
2 panels
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.0
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