1. Panels
  2. Severe Combined Immunodeficiency (absent T absent B cells)
  3. PSMB10
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Severe Combined Immunodeficiency (absent T absent B cells)

Gene: PSMB10

Green List (high evidence)
PSMB10 (proteasome subunit beta 10)
EnsemblGeneIds (GRCh38): ENSG00000205220
EnsemblGeneIds (GRCh37): ENSG00000205220
OMIM: 176847, Gene2Phenotype
PSMB10 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six individuals with three de novo missense variants. Individuals presented with T-B-NK± severe combined immunodeficiency (SCID) and clinical features suggestive of Omenn syndrome, including diarrhea, alopecia, and desquamating erythematous rash.
Sources: Literature
Created: 2 Apr 2024, 7:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Severe combined immunodeficiency, MONDO:0015974, PSMB10-related

Publications

Created: 2 Apr 2024, 7:22 a.m.

Panel version: 1.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Severe combined immunodeficiency, MONDO:0015974, PSMB10-related
OMIM
176847
Clinvar variants
Variants in PSMB10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb10 has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psmb10 has been classified as Green List (High Evidence).

2 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PSMB10 was added gene: PSMB10 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Literature Mode of inheritance for gene: PSMB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSMB10 were set to 38503300 Phenotypes for gene: PSMB10 were set to Severe combined immunodeficiency, MONDO:0015974, PSMB10-related Review for gene: PSMB10 was set to GREEN