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Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 CR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.48 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Classified gene: CXCR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with biallelic CXCR2 variants. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.40 CXCR2 Achchuthan Shanmugasundram Gene: cxcr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CXCR2 Achchuthan Shanmugasundram reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?WHIM syndrome 2, OMIM:619407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CR2 Achchuthan Shanmugasundram edited their review of gene: CR2: Changed phenotypes to: ?Immunodeficiency, common variable, 7, OMIM:614699
Primary immunodeficiency or monogenic inflammatory bowel disease v4.39 CR2 Achchuthan Shanmugasundram Phenotypes for gene: CR2 were changed from Immunodeficiency, common variable, 7, 614699; Lupus; Immunodeficiency, common variable, 7; Common variable immunodeficiency disorders (CVID); Isolated IgG subclass deficiency; hypogammaglobulinaemia; Recurrent infections; Predominantly Antibody Deficiencies to ?Immunodeficiency, common variable, 7, OMIM:614699
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Classified gene: CR2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are three unrelated cases in support of the association of CR2 to immunodeficiency. Hence, this gene can be promoted to Green in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.38 CR2 Achchuthan Shanmugasundram Gene: cr2 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 CR2 Achchuthan Shanmugasundram reviewed gene: CR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Immunodeficiency, common variable, 7, OMIM: 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 CXCR2 Hannah Knight reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24777453, 34854278; Phenotypes: ?WHIM syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 CR2 Hannah Knight reviewed gene: CR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22035880, 26325596, 28499783; Phenotypes: Immunodeficiency, common variable, 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.561 CRACR2A Arina Puzriakova Classified gene: CRACR2A as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.561 CRACR2A Arina Puzriakova Gene: cracr2a has been classified as Red List (Low Evidence).
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 v2.526 CRACR2A Zornitza Stark gene: CRACR2A was added
gene: CRACR2A was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRACR2A were set to PMID:34908525
Phenotypes for gene: CRACR2A were set to late onset combined immunodeficiency
Review for gene: CRACR2A was set to RED
Added comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 CXCR2 Sophie Hambleton reviewed gene: CXCR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.452 CXCR2 Arina Puzriakova Phenotypes for gene: CXCR2 were changed from WHIM syndrome 2 619407 to WHIM syndrome 2, OMIM:619407
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 CXCR2 Arina Puzriakova Classified gene: CXCR2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.451 CXCR2 Arina Puzriakova Gene: cxcr2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.441 CXCR2 Zornitza Stark gene: CXCR2 was added
gene: CXCR2 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CXCR2 were set to 24777453
Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407
Review for gene: CXCR2 was set to RED
Added comment: 2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: Literature
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 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 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37433-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -B) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
Added phenotypes 188400; immune deficiency; renal anomalies; 22q11.2 deletion syndrome; 192430; facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay; polyhydramnios; Velocardiofacial syndrome; Learning difficulties; diaphragmatic hernia; DiGeorge syndrome; congenital heart disease; cleft palate, polydactyly for Region: ISCA-37433-Loss
Publications for Region: ISCA-37433-Loss were changed from 15545748; 15889418; 20301696 to 15889418; 20301696; 15545748
Primary immunodeficiency or monogenic inflammatory bowel disease v1.8 ISCA-37446-Loss Louise Daugherty 22q11.2 recurrent (DGS/VCFS) region (proximal region, LCR22-A to -D) Loss was changed to 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
Added phenotypes 188400; neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells; micrognathia; clefting; Hearing deficits; Velocardiofacial syndrome; cardiac malformations; DiGeorge syndrome for Region: ISCA-37446-Loss
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty marked gene: CR2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty commented on gene: CR2
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty edited their review of CR2
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty commented on CR2
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty commented on CR2
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty commented on CR2
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty reviewed CR2
Primary immunodeficiency or monogenic inflammatory bowel disease CR2 Louise Daugherty Added gene to panel