COVID-19 research
Gene: HAVCR2Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least 20 families. PMID 30374066 haplotype analysis identified at least 12 distinct chromosome backgrounds within 7 families homozygous for rs184868814, suggestive of recurrant occurrence.Created: 7 May 2020, 2:51 p.m. | Last Modified: 7 May 2020, 2:51 p.m.
Panel Version: 0.204
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Panniculitis; T-cell lymphoma; haemophagocytic lymphohistiocytosis
Gene: havcr2 has been classified as Green List (High Evidence).
Source Expert Review Green was added to HAVCR2. Added phenotypes T-cell lymphoma, subcutaneous panniculitis-like, 618398; Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; Autoinflammatory Disorders for gene: HAVCR2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HAVCR2 was added gene: HAVCR2 was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAVCR2 were set to 30792187; 32086639; 32048120; 30374066 Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, 618398; Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; Autoinflammatory Disorders