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  2. Autoinflammatory Disorders
  3. PSMA3
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Autoinflammatory Disorders

Gene: PSMA3

Amber List (moderate evidence)
PSMA3 (proteasome subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000100567
EnsemblGeneIds (GRCh37): ENSG00000100567
OMIM: 176843, Gene2Phenotype
PSMA3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two individuals with variants in this gene as well as variants in PSMB8, digenic model proposed.
Created: 11 Apr 2020, 6:54 a.m. | Last Modified: 11 Apr 2020, 6:54 a.m.
Panel Version: 0.48

Mode of inheritance
Other

Phenotypes
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040

Publications

Created: 11 Apr 2020, 6:54 a.m.
Last Modified: 11 Apr 2020, 6:54 a.m.
Panel version: 0.48

Details

Mode of Inheritance
Other
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
OMIM
176843
Clinvar variants
Variants in PSMA3
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: psma3 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: PSMA3 were changed from to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040

11 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PSMA3 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: PSMA3 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: psma3 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: PSMA3 was added gene: PSMA3 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: PSMA3 was set to Unknown