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Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 PSMB10 Achchuthan Shanmugasundram Classified gene: PSMB10 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 PSMB10 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence for the promotion of this gene to green rating in this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.67 PSMB10 Achchuthan Shanmugasundram Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.66 PSMB10 Achchuthan Shanmugasundram Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome (PRAAS) to Proteasome-associated autoinflammatory syndrome 5, OMIM:619175
Primary immunodeficiency or monogenic inflammatory bowel disease v4.65 PSMB10 Achchuthan Shanmugasundram Publications for gene: PSMB10 were set to 31783057
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 PSMB10 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: PSMB10.
Tag Q4_23_NHS_review tag was added to gene: PSMB10.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.64 PSMB10 Achchuthan Shanmugasundram reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Proteasome-associated autoinflammatory syndrome 5, OMIM:619175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 PSMB10 Hannah Knight reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37600812; Phenotypes: Proteasome-associated autoinflammatory syndrome 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Classified gene: PSMB10 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.55 PSMB10 Sarah Leigh Gene: psmb10 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.54 PSMB10 Sarah Leigh Phenotypes for gene: PSMB10 were changed from Proteasome-associated autoinflammatory syndrome to Proteasome-associated autoinflammatory syndrome (PRAAS)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Classified gene: PSMB10 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Added comment: Comment on list classification: New gene for review. Single case recommend Red rating
Primary immunodeficiency or monogenic inflammatory bowel disease v2.6 PSMB10 Louise Daugherty Gene: psmb10 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 PSMB10 Louise Daugherty reviewed gene: PSMB10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.0 PSMB10 Owen Siggs 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
Added comment: Single case, homozygous missense variant, good functional experimental support.
Sources: Literature