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Primary immunodeficiency or monogenic inflammatory bowel disease v8.24 HSPA1L Arina Puzriakova Classified gene: HSPA1L as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.24 HSPA1L Arina Puzriakova Added comment: Comment on list classification: This gene was recently promoted to Green and added to the diagnostic panel, however as per review by Zornitza Stark, it has since come to light that several variants reported in patients have a high frequency in the general population, calling into question their pathogenicity. Hence, tagging for GMS expert review to determine whether this gene should be demoted on this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.24 HSPA1L Arina Puzriakova Gene: hspa1l has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.23 HSPA1L Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: HSPA1L.
Tag Q3_25_demote_amber tag was added to gene: HSPA1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Arina Puzriakova Tag gene-checked tag was added to gene: HSPA1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Eleanor Williams Tag Q1_24_promote_green was removed from gene: HSPA1L.
Tag Q1_24_NHS_review was removed from gene: HSPA1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.10 HSPA1L Eleanor Williams reviewed gene: HSPA1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v6.9 HSPA1L Eleanor Williams Source NHS GMS was added to HSPA1L.
Source Expert Review Green was added to HSPA1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.188 HSPA1L Zornitza Stark reviewed gene: HSPA1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: inflammatory bowel disease, MONDO:0005265, HSPA1L-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 HSPA1L Achchuthan Shanmugasundram Classified gene: HSPA1L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 HSPA1L Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases and functional studies) for the promotion of this gene to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.182 HSPA1L Achchuthan Shanmugasundram Gene: hspa1l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.181 HSPA1L Achchuthan Shanmugasundram Phenotypes for gene: HSPA1L were changed from Inflammatory bowel disease to inflammatory bowel disease, MONDO:0005265
Primary immunodeficiency or monogenic inflammatory bowel disease v4.180 HSPA1L Achchuthan Shanmugasundram Publications for gene: HSPA1L were set to PMID: 28126021
Primary immunodeficiency or monogenic inflammatory bowel disease v4.179 HSPA1L Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: HSPA1L.
Tag Q1_24_NHS_review tag was added to gene: HSPA1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.179 HSPA1L Achchuthan Shanmugasundram reviewed gene: HSPA1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28126021; Phenotypes: inflammatory bowel disease, MONDO:0005265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.163 HSPA1L Hannah Knight gene: HSPA1L was added
gene: HSPA1L was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: HSPA1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HSPA1L were set to PMID: 28126021
Phenotypes for gene: HSPA1L were set to Inflammatory bowel disease
Review for gene: HSPA1L was set to AMBER
Added comment: PMID: 28126021 (2017) identified a heterozygous de novo variant (c.830C > T; p.Ser277Leu) in HSPA1L in a patient with IBD + some in vitro testing which supported pathogenicity
Then identified five additional rare HSPA1L variants (p.Gly77Ser, p.Leu172del, p.Thr267Ile, p.Ala268Thr, p.Glu558Asp) in six patients from their IBD cohort
Sources: Literature