POMP

proteasome maturation protein
OMIM: 613386, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green POMP in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.35	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 1.146	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
Green POMP in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952 Tags promoter non-coding-known-pathogenic
Green POMP in Palmoplantar keratodermas Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	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 promoter non-coding-known-pathogenic
Green POMP in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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
Green POMP in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS ClinGen Research Literature Expert Review Phenotypes Proteasome-associated autoinflammatory syndrome 2, OMIM:618048