POMP

proteasome maturation protein
OMIM: 613386, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green POMP in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 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 2.0	1 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 1.0	1 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Combined immunodeficiency Autoinflammation
Green POMP in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes proteasome-associated autoinflammatory syndrome 2 MONDO:0054700
Green POMP in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	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 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)