POMP

proteasome maturation protein
OMIM: 613386, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green POMP in Ichthyosis Level 2: Dermatological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952 Tags 5'UTR
Green POMP in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma MIM#601952 Proteasome-associated autoinflammatory syndrome 2, MIM# 618048 Tags 5'UTR
Green POMP in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (MIM#601952)
Green POMP in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Combined immunodeficiency Autoinflammation
Green POMP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
Green POMP in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)