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 1.33	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 1.142	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 1.17	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 Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	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
Amber PSMB8 in Lipodystrophy - childhood onset Version 4.50 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags digenic Q3_23_promote_green Q3_23_NHS_review
No list PSMB8 in Monogenic diabetes Version 2.58 Latest signed off version: v2.2 (25 Feb 2020)	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 Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	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 3.88 Latest signed off version: v3.1 (22 Mar 2023) 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 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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 Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
Green PSMB8 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 1.17 Latest signed off version: v1.0 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Tags digenic