POMP

proteasome maturation protein
OMIM: 613386, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red POMP in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 Tags promoter curated-variant-list non-coding-known-pathogenic
Green POMP in COVID-19 research Level 2: Viral research Version 1.141	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green North West GLH Expert Review Green North West GLH NHS GMS London North GLH Phenotypes Proteasome-associated autoinflammatory syndrome 2, 618048 CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) combined immunodeficiency with autoinflammation
Red POMP in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 Tags promoter non-coding-known-pathogenic Q1_24_promote_green Q1_24_expert_review
Green POMP in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 Tags Q1_24_demote_red Q1_24_expert_review promoter non-coding-known-pathogenic
Green POMP in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green North West GLH NHS GMS London North GLH Phenotypes Proteasome-associated autoinflammatory syndrome 2, OMIM:618048 CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) Combined immunodeficiency with autoinflammation
Red POMP in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952