Primary immunodeficiencyGene: PSMB10
Comment on list classification: Not associated with phenotype in OMIM (last edited on 06/25/2007) or in Gen2Phen. PMID 31783057 reports a case of Proteasome-associated autoinflammatory syndrome in an infant with a biallelic variant (c.41T>C, p.Phe14Ser), together with supporting functional studies.
Created: 14 Apr 2020, 1:51 p.m. | Last Modified: 14 Apr 2020, 1:51 p.m.
Panel Version: 2.55
Comment on list classification: New gene for review. Single case recommend Red rating
Created: 26 Feb 2020, 4:32 p.m. | Last Modified: 26 Feb 2020, 4:32 p.m.
Panel Version: 2.6
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.
Created: 22 Jan 2020, 11:37 a.m. | Last Modified: 22 Jan 2020, 11:37 a.m.
Panel Version: 2.0
Single case, homozygous missense variant, good functional experimental support.
Created: 18 Jan 2020, 7:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Proteasome-associated autoinflammatory syndrome
Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome (PRAAS)
Gene: psmb10 has been classified as Red List (Low Evidence).
gene: PSMB10 was added gene: PSMB10 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: PSMB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB10 were set to 31783057 Phenotypes for gene: PSMB10 were set to Proteasome-associated autoinflammatory syndrome Review for gene: PSMB10 was set to AMBER