PSMB8

proteasome 20S subunit beta 8
OMIM: 177046, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red PSMB8 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040
Green PSMB8 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698
Green PSMB8 in Mendeliome Version 2.0	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698
Green PSMB8 in Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698
Green PSMB8 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 Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
Red PSMB8 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698
Green PSMB8 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698