Activity
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| Haematological malignancies cancer susceptibility v4.33 | HAVCR2 |
Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three different variants reported in patients from multiple descents - the p.Tyr82Cys variant occurs on a potential founder chromosome in patients with East Asian and Polynesian descent, while p.Ile97Met occurs in patients with European ancestry. This gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are three different variants reported in patients from multiple descents - the p.Tyr82Cys variant occurs on a potential founder chromosome in patients with East Asian and Polynesian descent, while p.Ile97Met occurs in patients with European ancestry. Expert opinion is sought from the Genomic Medicine Service on whether this gene can be promoted to green rating in the next GMS update. |
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| Haematological malignancies cancer susceptibility v4.33 | HAVCR2 | Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: HAVCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.33 | HAVCR2 | Achchuthan Shanmugasundram Tag Q3_25_expert_review was removed from gene: HAVCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.33 | HAVCR2 | Achchuthan Shanmugasundram Tag Q3_25_expert_review tag was added to gene: HAVCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.28 | HAVCR2 | Achchuthan Shanmugasundram Classified gene: HAVCR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.28 | HAVCR2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three different variants reported in patients from multiple descents - the p.Tyr82Cys variant occurs on a potential founder chromosome in patients with East Asian and Polynesian descent, while p.Ile97Met occurs in patients with European ancestry. This gene can be promoted to green rating in the next GMS update. |
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| Haematological malignancies cancer susceptibility v4.28 | HAVCR2 | Achchuthan Shanmugasundram Gene: havcr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.27 | HAVCR2 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: HAVCR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.27 | HAVCR2 |
Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene is associated with relevant phenotypes in OMIM (MIM #618398, OMIM accessed on 27 October 2025) and in Gene2Phenotype ('definitive' rating on Skin Panel). Biallelic variants in this gene are also associated with HAVCR2-related cancer predisposition (MONDO:1060169) with 'moderate' rating by Childhood, Adolescent and Young Adult Cancer Predisposition expert panel in ClinGen. |
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| Haematological malignancies cancer susceptibility v4.27 | HAVCR2 | Achchuthan Shanmugasundram Phenotypes for gene: HAVCR2 were changed from T-cell lymphoma, subcutaneous panniculitis-like (OMIM: 618398) to T-cell lymphoma, subcutaneous panniculitis-like, OMIM:618398; subcutaneous panniculitis-like T-cell lymphoma, MONDO:0019475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.26 | HAVCR2 | Achchuthan Shanmugasundram Publications for gene: HAVCR2 were set to PMID: 32005988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.25 | HAVCR2 | Achchuthan Shanmugasundram reviewed gene: HAVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30374066, 30792187, 32005988, 32285995; Phenotypes: T-cell lymphoma, subcutaneous panniculitis-like, OMIM:618398, subcutaneous panniculitis-like T-cell lymphoma, MONDO:0019475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v4.5 | HAVCR2 |
Lauma Freimane edited their review of gene: HAVCR2: Added comment: PMID: 30374066 "The variant encoding p.Tyr82Cys TIM-3 occurs on a potential founder chromosome in patients with East Asian and Polynesian ancestry, while p.Ile97Met TIM-3 occurs in patients with European ancestry. Both variants induce protein misfolding and abrogate TIM-3’s plasma membrane expression, leading to persistent immune activation and increased production of inflammatory cytokines, including tumor necrosis factor-α and interleukin-1β, promoting HLH and SPTCL."; Changed publications to: PMID: 32005988, 30374066 |
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| Haematological malignancies cancer susceptibility v4.5 | HAVCR2 |
Lauma Freimane gene: HAVCR2 was added gene: HAVCR2 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Expert Review,Literature Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAVCR2 were set to PMID: 32005988 Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like (OMIM: 618398) Penetrance for gene: HAVCR2 were set to Incomplete Mode of pathogenicity for gene: HAVCR2 was set to Other Review for gene: HAVCR2 was set to GREEN gene: HAVCR2 was marked as current diagnostic Added comment: From PMID: 32005988: Homozygous p.Ile97Met variant was found in subcutaneous panniculitis-like T-cell lymphoma (SPTCL) patients with European ancestry, 1 patient from North Africa, and patient from Reunion Island. Sources: Expert list, Expert Review, Literature |
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