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  3. PSMB4
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Autoinflammatory Disorders

Gene: PSMB4

Amber List (moderate evidence)
PSMB4 (proteasome subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000159377
EnsemblGeneIds (GRCh37): ENSG00000159377
OMIM: 602177, Gene2Phenotype
PSMB4 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One individual with bi-allelic variants, and two others with mono-allelic variants in PSMB4 as well as variants in PSMB9 or PSMB8, digenic model proposed.
Created: 11 Apr 2020, 7:01 a.m. | Last Modified: 11 Apr 2020, 7:01 a.m.
Panel Version: 0.52

Mode of inheritance
Other

Phenotypes
Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

Publications

Created: 11 Apr 2020, 7:01 a.m.
Last Modified: 11 Apr 2020, 7:01 a.m.
Panel version: 0.52

Details

Mode of Inheritance
Other
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
OMIM
602177
Clinvar variants
Variants in PSMB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb4 has been classified as Amber List (Moderate Evidence).

11 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PSMB4 were changed from to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591

11 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSMB4 were set to 26524591

11 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSMB4 were set to

11 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PSMB4 was changed from Unknown to Other

11 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSMB4 was added gene: PSMB4 was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: PSMB4 was set to Unknown