PSMB8

proteasome subunit beta 8
OMIM: 177046, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green PSMB8 in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.34	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Autoinflammation, lipodystrophy, and dermatosis syndrome
Green PSMB8 in COVID-19 research Level 2: Viral research Version 1.147	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2027 IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Autoinflammation, lipodystrophy, and dermatosis syndrome Contractures, panniculitis, ICC, fevers Autoinflammatory Disorders CANDLE syndrome
Red PSMB8 in Insulin resistance (including lipodystrophy) Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Autoinflammation, lipodystrophy, and dermatosis syndrome
Green PSMB8 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.88 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Autoinflammation, lipodystrophy, and dermatosis syndrome Contractures, panniculitis, ICC, fevers Autoinflammatory Disorders CANDLE syndrome
Green PSMB8 in Lipodystrophy - childhood onset Level 2: Endocrinology Version 4.67 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags digenic
No list PSMB8 in Monogenic diabetes Level 2: Endocrinology Version 3.14 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags curated_removed
Red PSMB8 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert review Red NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Red PSMB8 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Green PSMB8 in DDG2P Version 6.447 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 Green Phenotypes NAKAJO SYNDROME 256040
Red PSMB8 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.167 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Red Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Amber PSMB8 in Intellectual disability Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Green PSMB8 in Autoinflammatory disorders Level 2: Immunology Version 2.35 Latest signed off version: v2.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags digenic
Green PSMB8 in Childhood interstitial lung disease Level 2: Respiratory Version 0.7	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes proteasome-associated autoinflammatory syndrome 1, MONDO:0054698 Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040