Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: HAVCR2EnsemblGeneIds (GRCh38): ENSG00000135077
EnsemblGeneIds (GRCh37): ENSG00000135077
OMIM: 606652, Gene2Phenotype
HAVCR2 is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The 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
Sarah Leigh (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- Phenotypes
-
- T-cell lymphoma, subcutaneous panniculitis-like, 618398
- Tim-3 deficiency
- Autoinflammatory Disorders
- OMIM
- 606652
- Clinvar variants
- Variants in HAVCR2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag for-review was removed from gene: HAVCR2.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to HAVCR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: havcr2 has been classified as Amber List (Moderate Evidence).
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: HAVCR2.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: havcr2 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene HAVCR2 were updated from 32086639; 32048120 to 30792187; 32086639; 32048120; 30374066
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)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