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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova Tag for-review was removed from gene: HAVCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 HAVCR2 Arina Puzriakova commented on gene: HAVCR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 HAVCR2 Arina Puzriakova Source Expert Review Green was added to HAVCR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 HAVCR2 Arina Puzriakova Classified gene: HAVCR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 HAVCR2 Arina Puzriakova Added comment: 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).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.338 HAVCR2 Arina Puzriakova Gene: havcr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.337 HAVCR2 Arina Puzriakova Tag for-review tag was added to gene: HAVCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 HAVCR2 Sarah Leigh Classified gene: HAVCR2 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 HAVCR2 Sarah Leigh Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.168 HAVCR2 Sarah Leigh Gene: havcr2 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.167 HAVCR2 Sarah Leigh 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
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 HAVCR2 Zornitza Stark reviewed gene: HAVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30374066, 30792187; Phenotypes: T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 HAVCR2 Louise Daugherty reviewed gene: HAVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30374066, 30792187; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 HAVCR2 Louise Daugherty Publications for gene HAVCR2 were updated from 32086639; 32048120 to 30792187; 32086639; 32048120; 30374066
Primary immunodeficiency or monogenic inflammatory bowel disease v2.11 HAVCR2 Louise Daugherty 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