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  3. HAVCR2
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Autoinflammatory Disorders

Gene: HAVCR2

Green List (high evidence)
HAVCR2 (hepatitis A virus cellular receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000135077
EnsemblGeneIds (GRCh37): ENSG00000135077
OMIM: 606652, Gene2Phenotype
HAVCR2 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation, is a common feature of the condition.
Sources: Expert list
Created: 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

Created: 29 Mar 2022, 3:57 a.m.

Panel version: Imported from Disorders of immune dysregulation panel version 0.127

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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 list
Created: 5 Apr 2020, 11:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398

Publications

Created: 5 Apr 2020, 11:57 p.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
OMIM
606652
Clinvar variants
Variants in HAVCR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: havcr2 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: havcr2 has been classified as Green List (High Evidence).

5 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HAVCR2 was added gene: HAVCR2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAVCR2 were set to 30374066; 30792187 Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Review for gene: HAVCR2 was set to GREEN