Activity
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9 actions
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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.54 | CD48 | Achchuthan Shanmugasundram Classified gene: CD48 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.54 | CD48 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated patients with two different variants affecting the same residue and functional evidence available in support of the association of CD48 gene with immune dysregulation. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.54 | CD48 | Achchuthan Shanmugasundram Gene: cd48 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.53 | CD48 | Achchuthan Shanmugasundram Phenotypes for gene: CD48 were changed from Hemophagocytic lymphohistiocytosis; Urticaria; Hives; Inflammation; Fever; Hepatosplenomegaly to inborn error of immunity, MONDO:0003778 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.52 | CD48 | Achchuthan Shanmugasundram Publications for gene: CD48 were set to 31419545 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.51 | CD48 | Achchuthan Shanmugasundram Mode of inheritance for gene: CD48 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.50 | CD48 | Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: CD48. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v9.50 | CD48 | Achchuthan Shanmugasundram reviewed gene: CD48: Rating: GREEN; Mode of pathogenicity: None; Publications: 31419545, 41984595; Phenotypes: inborn error of immunity, MONDO:0003778; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v8.99 | CD48 |
Boaz Palterer gene: CD48 was added gene: CD48 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: CD48 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CD48 were set to 31419545 Phenotypes for gene: CD48 were set to Hemophagocytic lymphohistiocytosis; Urticaria; Hives; Inflammation; Fever; Hepatosplenomegaly Penetrance for gene: CD48 were set to unknown Mode of pathogenicity for gene: CD48 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CD48 was set to RED Added comment: Volkmer et al. described a patient with heterozygous p.S220Y causing HLH-like phenotype. Variant is likely dominant negative Further patient described recently validating DN mechanism: https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.95/281844/S220-Variants-of-Human-CD48-Result-in-Aberrant Sources: Literature |
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