Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: HAVCR2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 2:57 p.m. | Last Modified: 20 Oct 2020, 2:57 p.m.
Panel Version: 2.338
Comment 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: 2.168
Over 20 unrelated individuals reported, note germline confirmation not in all. Some variants are recurrent: c.245A>G (p.Tyr82Cys) and c.291A>G (p.Ile97Met).Created: 10 Apr 2020, 7:47 a.m. | Last Modified: 10 Apr 2020, 7:47 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Publications
Tag for-review was removed from gene: HAVCR2.
Source Expert Review Green was added to HAVCR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: havcr2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: HAVCR2.
Gene: havcr2 has been classified as Green List (High Evidence).
Phenotypes for gene: HAVCR2 were changed from Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; T-cell lymphoma, subcutaneous panniculitis-like, 618398; Autoinflammatory Disorders to T-cell lymphoma, subcutaneous panniculitis-like, 618398; Tim-3 deficiency; Autoinflammatory Disorders
Publications for gene HAVCR2 were updated from 32086639; 32048120 to 30792187; 32086639; 32048120; 30374066
gene: HAVCR2 was added gene: HAVCR2 was added to Primary immunodeficiency. 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 32086639; 32048120 Phenotypes for gene: HAVCR2 were set to Tim-3 deficiency; T-cell lymphoma, subcutaneous panniculitis-like, HLH; T-cell lymphoma, subcutaneous panniculitis-like, 618398; Autoinflammatory Disorders