Disorders of immune dysregulation
Gene: HAVCR2
Hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation, is a common feature of the condition.
Sources: Expert listCreated: 29 Mar 2022, 3:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Publications
Variants in this GENE are reported as part of current diagnostic practice
Over 20 unrelated individuals reported, note germline confirmation in only a few. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).
Sources: Expert listCreated: 5 Apr 2020, 11:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Publications
Gene: havcr2 has been classified as Green List (High Evidence).
Gene: havcr2 has been classified as Green List (High Evidence).
gene: HAVCR2 was added gene: HAVCR2 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAVCR2 were set to 30792187; 30374066 Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Review for gene: HAVCR2 was set to GREEN gene: HAVCR2 was marked as current diagnostic