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| 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. |
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| 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 |
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