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Common Variable Immunodeficiency v1.12 ICOSLG Zornitza Stark edited their review of gene: ICOSLG: Changed phenotypes: Immunodeficiency 119, MIM# 620825, Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia
Common Variable Immunodeficiency v1.12 SEC61A1 Zornitza Stark Phenotypes for gene: SEC61A1 were changed from hypogammaglobulinemia; common variable immunodeficiency to Immunodeficiency, common variable, 15, MIM# 620670
Common Variable Immunodeficiency v1.11 SEC61A1 Zornitza Stark Classified gene: SEC61A1 as Green List (high evidence)
Common Variable Immunodeficiency v1.11 SEC61A1 Zornitza Stark Gene: sec61a1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v1.10 SEC61A1 Zornitza Stark edited their review of gene: SEC61A1: Added comment: Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype.; Changed publications: 28782633
Common Variable Immunodeficiency v1.10 SEC61A1 Zornitza Stark reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, common variable, 15, MIM# 620670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v1.10 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408; 35849269
Common Variable Immunodeficiency v1.10 CD81 Zornitza Stark Publications for gene: CD81 were set to 20237408
Common Variable Immunodeficiency v1.9 CD81 Zornitza Stark Classified gene: CD81 as Green List (high evidence)
Common Variable Immunodeficiency v1.9 CD81 Zornitza Stark Gene: cd81 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v1.8 CD81 Zornitza Stark edited their review of gene: CD81: Added comment: PMID:35849269 - Second patient reported with compound heterozygous variants (c.67–1 G > T and p.D137Mfs*10). The major manifestation of this patient was IgA nephropathy with aberrant serum galactose-deficient IgA1 and not recurrent infections.; Changed rating: GREEN; Changed publications: 20237408, 35849269
Common Variable Immunodeficiency v1.8 CR2 Zornitza Stark Publications for gene: CR2 were set to 22035880; 26325596
Common Variable Immunodeficiency v1.7 CR2 Zornitza Stark Classified gene: CR2 as Green List (high evidence)
Common Variable Immunodeficiency v1.7 CR2 Zornitza Stark Gene: cr2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v1.6 CR2 Achchuthan Shanmugasundram reviewed gene: CR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22035880, 26325596, 28499783; Phenotypes: ?Immunodeficiency, common variable, 7, OMIM:614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v1.6 CTNNBL1 Zornitza Stark Phenotypes for gene: CTNNBL1 were changed from Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency to Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
Common Variable Immunodeficiency v1.5 CTNNBL1 Zornitza Stark edited their review of gene: CTNNBL1: Changed phenotypes: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
Common Variable Immunodeficiency v1.5 MAP3K14 Zornitza Stark Phenotypes for gene: MAP3K14 were changed from hypogammaglobulinemia; recurrent infections to Immunodeficiency 112, MIM# 620449
Common Variable Immunodeficiency v1.4 Zornitza Stark HPO terms changed from to Recurrent bacterial infections, HP:0002718; Abnormal immunoglobulin level, HP:0010701
List of related panels changed from to Common variable immunodeficiency; MONDO:0015517; Recurrent bacterial infections; HP:0002718; Abnormal immunoglobulin level; HP:0010701
Common Variable Immunodeficiency v1.3 IRF2BP2 Zornitza Stark Publications for gene: IRF2BP2 were set to 27016798; 32048120
Common Variable Immunodeficiency v1.2 IRF2BP2 Zornitza Stark Classified gene: IRF2BP2 as Green List (high evidence)
Common Variable Immunodeficiency v1.2 IRF2BP2 Zornitza Stark Gene: irf2bp2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v1.1 IRF2BP2 Peter McNaughton reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36193988, PMID: 33864888; Phenotypes: common variable immune deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v1.1 TCF3 Zornitza Stark Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Common Variable Immunodeficiency v1.0 TCF3 Zornitza Stark edited their review of gene: TCF3: Changed phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Common Variable Immunodeficiency v1.0 TRNT1 Zornitza Stark Deleted their comment
Common Variable Immunodeficiency v1.0 TRNT1 Zornitza Stark commented on gene: TRNT1: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anaemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopaenia and hypogammaglobulinaemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.

> 10 families reported.
Common Variable Immunodeficiency v1.0 Zornitza Stark promoted panel to version 1.0
Common Variable Immunodeficiency v0.132 VAV1 Zornitza Stark Marked gene: VAV1 as ready
Common Variable Immunodeficiency v0.132 VAV1 Zornitza Stark Gene: vav1 has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.132 BLK Zornitza Stark Marked gene: BLK as ready
Common Variable Immunodeficiency v0.132 BLK Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.132 BLK Zornitza Stark Classified gene: BLK as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.132 BLK Zornitza Stark Gene: blk has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.131 TTC37 Zornitza Stark Marked gene: TTC37 as ready
Common Variable Immunodeficiency v0.131 TTC37 Zornitza Stark Gene: ttc37 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.131 TTC37 Zornitza Stark Phenotypes for gene: TTC37 were changed from to Trichohepatoenteric syndrome 1, MIM# 222470; Respiratory infections; IUGR; Facial dysmorphic features; Wooly hair:Early-onset intractable diarrhoea; Liver cirrhosis; Platelet abnormalities
Common Variable Immunodeficiency v0.130 TTC37 Zornitza Stark Publications for gene: TTC37 were set to
Common Variable Immunodeficiency v0.129 TTC37 Zornitza Stark Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.128 TTC37 Zornitza Stark reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 21120949, 20176027; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470, Respiratory infections, IUGR, Facial dysmorphic features, Wooly hair:Early-onset intractable diarrhoea, Liver cirrhosis, Platelet abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.128 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Common Variable Immunodeficiency v0.128 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.128 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Common Variable Immunodeficiency v0.127 TRNT1 Zornitza Stark reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25193871, 23553769, 29170023, 27389523; Phenotypes: Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.127 TCF3 Zornitza Stark Marked gene: TCF3 as ready
Common Variable Immunodeficiency v0.127 TCF3 Zornitza Stark Gene: tcf3 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.127 TCF3 Zornitza Stark Phenotypes for gene: TCF3 were changed from to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
Common Variable Immunodeficiency v0.126 TCF3 Zornitza Stark Publications for gene: TCF3 were set to
Common Variable Immunodeficiency v0.125 TCF3 Zornitza Stark Mode of inheritance for gene: TCF3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.124 TCF3 Zornitza Stark reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24216514, 28532655, 30063982, 8001124, 8001125; Phenotypes: Agammaglobulinemia 8, autosomal dominant, MIM# 616941; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.124 PRKCD Zornitza Stark Marked gene: PRKCD as ready
Common Variable Immunodeficiency v0.124 PRKCD Zornitza Stark Gene: prkcd has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.124 PRKCD Zornitza Stark Phenotypes for gene: PRKCD were changed from to Autoimmune lymphoproliferative syndrome, type III, MIM# 615559; CVID 9
Common Variable Immunodeficiency v0.123 PRKCD Zornitza Stark Publications for gene: PRKCD were set to
Common Variable Immunodeficiency v0.122 PRKCD Zornitza Stark Mode of inheritance for gene: PRKCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.121 PRKCD Zornitza Stark reviewed gene: PRKCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23319571, 23666743, 23430113, 11976687, 33047643, 29867916; Phenotypes: Autoimmune lymphoproliferative syndrome, type III, MIM# 615559, CVID 9; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.121 NFKB2 Zornitza Stark Marked gene: NFKB2 as ready
Common Variable Immunodeficiency v0.121 NFKB2 Zornitza Stark Gene: nfkb2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.121 NFKB2 Zornitza Stark Phenotypes for gene: NFKB2 were changed from Immunodeficiency, common variable, 10 MIM#615577 to Immunodeficiency, common variable, 10 MIM# 615577; Low serum IgG, IgA, IgM; low B cell numbers; low switched memory B cells; Recurrent sinopulmonary infections, Alopecia; endocrinopathies; ACTH deficiency
Common Variable Immunodeficiency v0.120 NFKB2 Zornitza Stark Publications for gene: NFKB2 were set to
Common Variable Immunodeficiency v0.119 NFKB2 Zornitza Stark reviewed gene: NFKB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140114, 24888602, 25524009, 31417880; Phenotypes: Immunodeficiency, common variable, 10 MIM# 615577, Low serum IgG, IgA, IgM, low B cell numbers, low switched memory B cells, Recurrent sinopulmonary infections, Alopecia, endocrinopathies, ACTH deficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.119 NFKB1 Zornitza Stark Marked gene: NFKB1 as ready
Common Variable Immunodeficiency v0.119 NFKB1 Zornitza Stark Gene: nfkb1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.119 NFKB1 Zornitza Stark Phenotypes for gene: NFKB1 were changed from Immunodeficiency, common variable, 12 MIM#616576 to Immunodeficiency, common variable, 12 MIM# 616576; Normal-low IgG, IgA, IgM; low-normal B cells; low switched memory B cells; hypogammaglobulinaemia; recurrent respiratory and gastrointestinal infections; Chronic obstructive pulmonary disease COPD; EBV proliferation; autoimmunity; alopecia
Common Variable Immunodeficiency v0.118 NFKB1 Zornitza Stark Publications for gene: NFKB1 were set to
Common Variable Immunodeficiency v0.117 NFKB1 Zornitza Stark reviewed gene: NFKB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26279205, 32278790, 27022143, 7834752; Phenotypes: Immunodeficiency, common variable, 12 MIM# 616576, Normal-low IgG, IgA, IgM, low-normal B cells, low switched memory B cells, hypogammaglobulinaemia, recurrent respiratory and gastrointestinal infections, Chronic obstructive pulmonary disease COPD, EBV proliferation, autoimmunity, alopecia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.117 IKZF1 Zornitza Stark Marked gene: IKZF1 as ready
Common Variable Immunodeficiency v0.117 IKZF1 Zornitza Stark Gene: ikzf1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.117 IKZF1 Zornitza Stark Phenotypes for gene: IKZF1 were changed from Immunodeficiency, common variable, 13 MIM#616873 to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset
Common Variable Immunodeficiency v0.116 IKZF1 Zornitza Stark Publications for gene: IKZF1 were set to
Common Variable Immunodeficiency v0.115 IKZF1 Zornitza Stark reviewed gene: IKZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21548011, 26981933, 29889099, 31057532, 7923373, 11805317; Phenotypes: Immunodeficiency, common variable, 13 MIM# 616873, recurrent bacterial respiratory infections, Thrombocytopaenia, immunodeficiency, Hypogammaglobulinaemia, decrease B-cells, decrease B-cell differentiation, decrease memory B/T cells, Low Ig, pneumocystis early CID onset; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.115 ICOS Zornitza Stark Marked gene: ICOS as ready
Common Variable Immunodeficiency v0.115 ICOS Zornitza Stark Gene: icos has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.115 ICOS Zornitza Stark Phenotypes for gene: ICOS were changed from to Immunodeficiency, common variable, 1 MIM# 607594; recurrent bacterial respiratory/gastrointestinal infections; autoimmunity; gastroenteritis; low IgG/IgA; normal-low IgM; hypogammaglobulinaemia; low-normal B-cells; normal T-cells; Bronchitis; Lymphadenopathy; Hepatomegaly; Diarrhoea
Common Variable Immunodeficiency v0.114 ICOS Zornitza Stark Publications for gene: ICOS were set to
Common Variable Immunodeficiency v0.113 ICOS Zornitza Stark Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.112 ICOS Zornitza Stark reviewed gene: ICOS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12577056, 15507387, 19380800, 28861081, 31858365, 11343122, 16982935; Phenotypes: Immunodeficiency, common variable, 1 MIM# 607594, recurrent bacterial respiratory/gastrointestinal infections, autoimmunity, gastroenteritis, low IgG/IgA, normal-low IgM, hypogammaglobulinaemia, low-normal B-cells, normal T-cells, Bronchitis, Lymphadenopathy, Hepatomegaly, Diarrhoea; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.111 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Common Variable Immunodeficiency v0.111 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.111 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome, MIM# 193670
Common Variable Immunodeficiency v0.110 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Common Variable Immunodeficiency v0.109 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.108 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.108 CTLA4 Zornitza Stark Marked gene: CTLA4 as ready
Common Variable Immunodeficiency v0.108 CTLA4 Zornitza Stark Gene: ctla4 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.108 CTLA4 Zornitza Stark Phenotypes for gene: CTLA4 were changed from to Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
Common Variable Immunodeficiency v0.107 CTLA4 Zornitza Stark Publications for gene: CTLA4 were set to
Common Variable Immunodeficiency v0.106 CTLA4 Zornitza Stark Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.105 CTLA4 Zornitza Stark reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25213377, 25329329, 30377434; Phenotypes: Autoimmune lymphoproliferative syndrome, type V, MIM# 616100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.105 CD19 Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported. Clinical features include increased susceptibility to infection, hypogammaglobulinaemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder.
Common Variable Immunodeficiency v0.105 CD19 Zornitza Stark Marked gene: CD19 as ready
Common Variable Immunodeficiency v0.105 CD19 Zornitza Stark Gene: cd19 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.105 CD19 Zornitza Stark Phenotypes for gene: CD19 were changed from Immunodeficiency, common variable, 3 MIM#613493 to Immunodeficiency, common variable, 3, MIM#613493
Common Variable Immunodeficiency v0.104 CD19 Zornitza Stark Publications for gene: CD19 were set to
Common Variable Immunodeficiency v0.103 CD19 Zornitza Stark reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16672701, 17882224, 17882224, 21330302, 21159371; Phenotypes: Immunodeficiency, common variable, 3, MIM# 613493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.103 CD27 Zornitza Stark Marked gene: CD27 as ready
Common Variable Immunodeficiency v0.103 CD27 Zornitza Stark Gene: cd27 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.103 CD27 Zornitza Stark Phenotypes for gene: CD27 were changed from to Lymphoproliferative syndrome 2; CD27-deficiency MIM# 615122; hepatosplenomegaly; reduced CD8+ T-cell function; lymphadenopathy; hepatosplenomegaly; fever; increased susceptibility to EBV infection; aplastic anaemia
Common Variable Immunodeficiency v0.102 CD27 Zornitza Stark Publications for gene: CD27 were set to
Common Variable Immunodeficiency v0.101 CD27 Zornitza Stark Mode of inheritance for gene: CD27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.100 CD27 Zornitza Stark reviewed gene: CD27: Rating: GREEN; Mode of pathogenicity: None; Publications: 22197273, 22801960, 22365582, 25843314, 11062504; Phenotypes: Lymphoproliferative syndrome 2, CD27-deficiency MIM# 615122, hepatosplenomegaly, reduced CD8+ T-cell function, lymphadenopathy, hepatosplenomegaly, fever, increased susceptibility to EBV infection, aplastic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.100 SOCS1 Zornitza Stark Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Common variable immunodeficiency
Common Variable Immunodeficiency v0.99 SOCS1 Zornitza Stark reviewed gene: SOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375, Early-onset autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.99 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Common Variable Immunodeficiency v0.99 PIK3CD Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.99 PIK3CD Zornitza Stark Phenotypes for gene: PIK3CD were changed from Immunodeficiency 14 MIM#615513 to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513
Common Variable Immunodeficiency v0.98 PIK3CD Zornitza Stark Mode of pathogenicity for gene: PIK3CD was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other
Common Variable Immunodeficiency v0.98 PIK3CD Zornitza Stark Publications for gene: PIK3CD were set to
Common Variable Immunodeficiency v0.97 PIK3CD Zornitza Stark Mode of inheritance for gene: PIK3CD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.96 PIK3CD Zornitza Stark reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295; Phenotypes: Immunodeficiency 14B, autosomal recessive, MIM# 619281, Immunodeficiency 14A, autosomal dominant, MIM# 615513; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.96 PTEN Zornitza Stark Publications for gene: PTEN were set to 27531073; 27426521; 32588888
Common Variable Immunodeficiency v0.95 PTEN Zornitza Stark Phenotypes for gene: PTEN were changed from Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350 to Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350; Skewed immune repertoire composition
Common Variable Immunodeficiency v0.95 PTEN Zornitza Stark Publications for gene: PTEN were set to 27531073; 27426521
Common Variable Immunodeficiency v0.94 PTEN Zornitza Stark reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: Skewed immune repertoire composition; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Marked gene: CTNNBL1 as ready
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Classified gene: CTNNBL1 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.94 CTNNBL1 Zornitza Stark Gene: ctnnbl1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.93 CTNNBL1 Zornitza Stark gene: CTNNBL1 was added
gene: CTNNBL1 was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNBL1 were set to 32484799
Phenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency
Review for gene: CTNNBL1 was set to AMBER
Added comment: PMID: 32484799 (2020) - One patient with common variable immunodeficiency associated with autoimmune cytopenia (CVID+AIC), associated with a homozygous missense M466V variant in the CTNNBL1 gene. Functional studies showed that the variant impaired interaction with AID, in turn disrupting AID-mediated antibody diversification in activated B-cells.
Sources: Literature
Common Variable Immunodeficiency v0.92 SOCS1 Bryony Thompson edited their review of gene: SOCS1: Changed phenotypes: Common variable immunodeficiency
Common Variable Immunodeficiency v0.92 SOCS1 Bryony Thompson Phenotypes for gene: SOCS1 were changed from Common variant immunodeficiency to Common variable immunodeficiency
Common Variable Immunodeficiency v0.91 SOCS1 Bryony Thompson Marked gene: SOCS1 as ready
Common Variable Immunodeficiency v0.91 SOCS1 Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.91 SOCS1 Bryony Thompson Classified gene: SOCS1 as Green List (high evidence)
Common Variable Immunodeficiency v0.91 SOCS1 Bryony Thompson Gene: socs1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.90 SOCS1 Bryony Thompson gene: SOCS1 was added
gene: SOCS1 was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100
Phenotypes for gene: SOCS1 were set to Common variant immunodeficiency
Review for gene: SOCS1 was set to GREEN
Added comment: 2 unrealted families with truncating variants with supportive immunophenotyping of patient cells, and supporting null mouse models.
Sources: Literature
Common Variable Immunodeficiency v0.88 ADA2 Bryony Thompson Marked gene: ADA2 as ready
Common Variable Immunodeficiency v0.88 ADA2 Bryony Thompson Gene: ada2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.88 ADA2 Bryony Thompson Classified gene: ADA2 as Green List (high evidence)
Common Variable Immunodeficiency v0.88 ADA2 Bryony Thompson Gene: ada2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.87 ADA2 Bryony Thompson gene: ADA2 was added
gene: ADA2 was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 26922074; 29963054; 32659374; 24552284; 28493328; 28493328
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency
Review for gene: ADA2 was set to GREEN
Added comment: Clinical manifestations of deficiency of ADA2 (DADA2) include hypogammaglobulinemia and recurrent infections. At least 10 unrelated cases reported, of which 6 have a CVID diagnosis.
Sources: Literature
Common Variable Immunodeficiency v0.86 BLK Bryony Thompson gene: BLK was added
gene: BLK was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BLK were set to 25926555
Phenotypes for gene: BLK were set to common variable immunodeficiency
Review for gene: BLK was set to AMBER
Added comment: A single family with 2 affected cases with a heterozygous missense (L3P), with supporting in vitro and patient cell assays.
Sources: Literature
Common Variable Immunodeficiency v0.85 VAV1 Bryony Thompson gene: VAV1 was added
gene: VAV1 was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: VAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VAV1 were set to 20638113; 23058036
Phenotypes for gene: VAV1 were set to Common variable immnodeficiency
Review for gene: VAV1 was set to RED
Added comment: Reduced VAV1 expression has been reported in multiple T-CVID cases, however only one large deletion (exon 2-27) has been reported in a single case in a publication from 2012. The CNV was detected using real-time qPCR, but was not confirmed by an orthogonal method.
Sources: Literature
Common Variable Immunodeficiency v0.84 PLCG2 Bryony Thompson Marked gene: PLCG2 as ready
Common Variable Immunodeficiency v0.84 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.84 PLCG2 Bryony Thompson Classified gene: PLCG2 as Green List (high evidence)
Common Variable Immunodeficiency v0.84 PLCG2 Bryony Thompson Gene: plcg2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.83 PLCG2 Bryony Thompson gene: PLCG2 was added
gene: PLCG2 was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLCG2 were set to 31853824; 32671674; 22236196
Phenotypes for gene: PLCG2 were set to Common variable immunodeficiency; Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Mode of pathogenicity for gene: PLCG2 was set to Other
Review for gene: PLCG2 was set to GREEN
Added comment: 7 cases from 5 unrelated families reported with a clinical diagnosis of CVID or hypogammaglobulinemia and heterozygous gain-of-function nonsynonymous variants.
Sources: Literature
Common Variable Immunodeficiency v0.82 LRBA Bryony Thompson Marked gene: LRBA as ready
Common Variable Immunodeficiency v0.82 LRBA Bryony Thompson Gene: lrba has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.82 LRBA Bryony Thompson Classified gene: LRBA as Green List (high evidence)
Common Variable Immunodeficiency v0.82 LRBA Bryony Thompson Gene: lrba has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.81 LRBA Bryony Thompson gene: LRBA was added
gene: LRBA was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 22608502; 32506362
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Review for gene: LRBA was set to GREEN
Added comment: At least 5 unrelated consanguineous families reported with CVID.
Sources: Literature
Common Variable Immunodeficiency v0.80 IL21 Bryony Thompson Marked gene: IL21 as ready
Common Variable Immunodeficiency v0.80 IL21 Bryony Thompson Gene: il21 has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.80 IL21 Bryony Thompson gene: IL21 was added
gene: IL21 was added to Common Variable Immunodeficiency. Sources: Literature
Mode of inheritance for gene: IL21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL21 were set to 24746753; 19738033
Phenotypes for gene: IL21 were set to Immunodeficiency, common variable, 11 MIM#615767
Review for gene: IL21 was set to RED
Added comment: A single case with a homozygous loss of function variant has been identified with a IBD and CVID-like disorder. Animal models exist in OMIM, but unsure if the null mouse model recapitulates the human phenotype.
Sources: Literature
Common Variable Immunodeficiency v0.78 MAP3K14 Bryony Thompson Marked gene: MAP3K14 as ready
Common Variable Immunodeficiency v0.78 MAP3K14 Bryony Thompson Gene: map3k14 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.78 MAP3K14 Bryony Thompson Phenotypes for gene: MAP3K14 were changed from to hypogammaglobulinemia; recurrent infections
Common Variable Immunodeficiency v0.77 MAP3K14 Bryony Thompson Publications for gene: MAP3K14 were set to
Common Variable Immunodeficiency v0.76 MAP3K14 Bryony Thompson reviewed gene: MAP3K14: Rating: GREEN; Mode of pathogenicity: None; Publications: 29230214, 11251123, 25406581; Phenotypes: hypogammaglobulinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.76 Bryony Thompson Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital
Common Variable Immunodeficiency v0.75 TRNT1 Bryony Thompson Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.74 TRNT1 Bryony Thompson Classified gene: TRNT1 as Green List (high evidence)
Common Variable Immunodeficiency v0.74 TRNT1 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.74 TRNT1 Bryony Thompson Gene: trnt1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.73 TRNT1 Bryony Thompson Phenotypes for gene: TRNT1 were changed from to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084
Common Variable Immunodeficiency v0.72 TNFSF12 Bryony Thompson reviewed gene: TNFSF12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32048120, 23493554; Phenotypes: Common variable immunodeficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.72 TNFRSF13C Bryony Thompson Classified gene: TNFRSF13C as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.72 TNFRSF13C Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.72 TNFRSF13C Bryony Thompson Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.71 TNFRSF13B Bryony Thompson Classified gene: TNFRSF13B as Green List (high evidence)
Common Variable Immunodeficiency v0.71 TNFRSF13B Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.71 TNFRSF13B Bryony Thompson Gene: tnfrsf13b has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.70 SEC61A1 Bryony Thompson Marked gene: SEC61A1 as ready
Common Variable Immunodeficiency v0.70 SEC61A1 Bryony Thompson Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.70 SEC61A1 Bryony Thompson Classified gene: SEC61A1 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.70 SEC61A1 Bryony Thompson Gene: sec61a1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.69 SEC61A1 Bryony Thompson edited their review of gene: SEC61A1: Changed publications: 28782633, 32048120
Common Variable Immunodeficiency v0.69 SEC61A1 Bryony Thompson changed review comment from: Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays.
Sources: Expert list; to: Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays.
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Common Variable Immunodeficiency v0.69 SEC61A1 Bryony Thompson gene: SEC61A1 was added
gene: SEC61A1 was added to Common Variable Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 28782633
Phenotypes for gene: SEC61A1 were set to hypogammaglobulinemia; common variable immunodeficiency
Review for gene: SEC61A1 was set to AMBER
Added comment: Two unrelated families with a heterozygous missense (p.V85D) and nonsense (p.E381*) segregating with the disease phenotype, and supporting in vitro functional assays.
Sources: Expert list
Common Variable Immunodeficiency v0.68 PTEN Bryony Thompson Marked gene: PTEN as ready
Common Variable Immunodeficiency v0.68 PTEN Bryony Thompson Gene: pten has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.68 PTEN Bryony Thompson Classified gene: PTEN as Green List (high evidence)
Common Variable Immunodeficiency v0.68 PTEN Bryony Thompson Gene: pten has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.67 PTEN Bryony Thompson gene: PTEN was added
gene: PTEN was added to Common Variable Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTEN were set to 27531073; 27426521
Phenotypes for gene: PTEN were set to Macrocephaly/autism syndrome MIM#605309; Cowden syndrome 1 MIM#158350
Review for gene: PTEN was set to GREEN
Added comment: At least 4 unrelated probands with PTEN loss of function variants have been reported with hypogammaglobulinemia, fulfilling the common variable immunodeficiency (CVID) disorders diagnostic criteria.
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Common Variable Immunodeficiency v0.66 RAC2 Bryony Thompson Marked gene: RAC2 as ready
Common Variable Immunodeficiency v0.66 RAC2 Bryony Thompson Gene: rac2 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.66 RAC2 Bryony Thompson Classified gene: RAC2 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.66 RAC2 Bryony Thompson Gene: rac2 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.65 RAC2 Bryony Thompson gene: RAC2 was added
gene: RAC2 was added to Common Variable Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAC2 were set to 25512081; 32048120; 14564011
Phenotypes for gene: RAC2 were set to Common variable immunodeficiency
Review for gene: RAC2 was set to AMBER
Added comment: Two siblings homozygous for a loss of function variant and a phenotype resembling CVID (not in OMIM), with supporting immunological assays of patient cells. Null mouse model demonstrates the gene has a critical role in B cell development and signalling. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Common Variable Immunodeficiency v0.64 PIK3R1 Bryony Thompson Marked gene: PIK3R1 as ready
Common Variable Immunodeficiency v0.64 PIK3R1 Bryony Thompson Gene: pik3r1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.64 PIK3R1 Bryony Thompson Classified gene: PIK3R1 as Green List (high evidence)
Common Variable Immunodeficiency v0.64 PIK3R1 Bryony Thompson Gene: pik3r1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.63 PIK3R1 Bryony Thompson gene: PIK3R1 was added
gene: PIK3R1 was added to Common Variable Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIK3R1 were set to 32048120; 27076228
Phenotypes for gene: PIK3R1 were set to Immunodeficiency 36 MIM#616005
Review for gene: PIK3R1 was set to GREEN
Added comment: 36 cases with PIK3R1-associated immunodeficiency were detected with c.1425+1G>A (42%), c.1425+1G>C (29%), c.1425+1G>T (13%). Four additional cases had mutations involving c.1425+2, and another had a G-C substitution at the -1 position of the splice acceptor site of exon 11. Analysis of patient mRNA demonstrated that all of the variants cause skipping of exon 11 (coding exon 10).
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Common Variable Immunodeficiency v0.62 PIK3CD Bryony Thompson Added comment: Comment on mode of pathogenicity: Gain of function is the mechanism of disease (PMID: 30018075)
Common Variable Immunodeficiency v0.62 PIK3CD Bryony Thompson Mode of pathogenicity for gene: PIK3CD was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Common Variable Immunodeficiency v0.61 PIK3CD Bryony Thompson Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14 MIM#615513
Common Variable Immunodeficiency v0.60 PIK3CD Bryony Thompson Mode of inheritance for gene: PIK3CD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.59 PIK3CD Bryony Thompson Classified gene: PIK3CD as Green List (high evidence)
Common Variable Immunodeficiency v0.59 PIK3CD Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.59 PIK3CD Bryony Thompson Gene: pik3cd has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.58 NFKB2 Bryony Thompson Phenotypes for gene: NFKB2 were changed from to Immunodeficiency, common variable, 10 MIM#615577
Common Variable Immunodeficiency v0.57 NFKB2 Bryony Thompson Mode of inheritance for gene: NFKB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.56 NFKB2 Bryony Thompson Classified gene: NFKB2 as Green List (high evidence)
Common Variable Immunodeficiency v0.56 NFKB2 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.56 NFKB2 Bryony Thompson Gene: nfkb2 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.55 NFKB1 Bryony Thompson Phenotypes for gene: NFKB1 were changed from to Immunodeficiency, common variable, 12 MIM#616576
Common Variable Immunodeficiency v0.54 NFKB1 Bryony Thompson Mode of inheritance for gene: NFKB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.53 NFKB1 Bryony Thompson Classified gene: NFKB1 as Green List (high evidence)
Common Variable Immunodeficiency v0.53 NFKB1 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.53 NFKB1 Bryony Thompson Gene: nfkb1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.52 MOGS Bryony Thompson Marked gene: MOGS as ready
Common Variable Immunodeficiency v0.52 MOGS Bryony Thompson Gene: mogs has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.52 MOGS Bryony Thompson Classified gene: MOGS as Green List (high evidence)
Common Variable Immunodeficiency v0.52 MOGS Bryony Thompson Gene: mogs has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.51 MOGS Bryony Thompson gene: MOGS was added
gene: MOGS was added to Common Variable Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOGS were set to 32048120; 10788335; 24716661; 29235540
Phenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb MIM#606056; Mannosyl-oligosaccharide glucosidase deficiency (MOGS)
Review for gene: MOGS was set to GREEN
Added comment: 4 cases in 3 unrelated families with immunodeficiency as a prominent feature of the condition. Analysis of patient cells suggest a loss of function mechanism. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Common Variable Immunodeficiency v0.50 IRF2BP2 Bryony Thompson Marked gene: IRF2BP2 as ready
Common Variable Immunodeficiency v0.50 IRF2BP2 Bryony Thompson Gene: irf2bp2 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.50 IRF2BP2 Bryony Thompson Classified gene: IRF2BP2 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.50 IRF2BP2 Bryony Thompson Gene: irf2bp2 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.49 IRF2BP2 Bryony Thompson gene: IRF2BP2 was added
gene: IRF2BP2 was added to Common Variable Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IRF2BP2 were set to 27016798; 32048120
Phenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14 MIM#617765
Review for gene: IRF2BP2 was set to AMBER
Added comment: A single family with 3 affected members with a heterozygous missense variant and supporting in vitro assays and assays of patient cells.
On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Common Variable Immunodeficiency v0.48 CD19 Bryony Thompson Phenotypes for gene: CD19 were changed from to Immunodeficiency, common variable, 3 MIM#613493
Common Variable Immunodeficiency v0.47 CD19 Bryony Thompson Mode of inheritance for gene: CD19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.46 IKZF1 Bryony Thompson Mode of inheritance for gene: IKZF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.45 IKZF1 Bryony Thompson Phenotypes for gene: IKZF1 were changed from to Immunodeficiency, common variable, 13 MIM#616873
Common Variable Immunodeficiency v0.44 IKZF1 Bryony Thompson Classified gene: IKZF1 as Green List (high evidence)
Common Variable Immunodeficiency v0.44 IKZF1 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.44 IKZF1 Bryony Thompson Gene: ikzf1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.43 CD81 Bryony Thompson Classified gene: CD81 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.43 CD81 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.43 CD81 Bryony Thompson Gene: cd81 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.42 MS4A1 Bryony Thompson Classified gene: MS4A1 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.42 MS4A1 Bryony Thompson Gene: ms4a1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.41 MS4A1 Bryony Thompson reviewed gene: MS4A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20038800, 23966626, 32048120; Phenotypes: Immunodeficiency, common variable, 5 MIM#613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.41 MS4A1 Bryony Thompson Deleted their review
Common Variable Immunodeficiency v0.41 MS4A1 Bryony Thompson Deleted their comment
Common Variable Immunodeficiency v0.41 MS4A1 Bryony Thompson Classified gene: MS4A1 as Red List (low evidence)
Common Variable Immunodeficiency v0.41 MS4A1 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.41 MS4A1 Bryony Thompson Gene: ms4a1 has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.40 CD19 Bryony Thompson Classified gene: CD19 as Green List (high evidence)
Common Variable Immunodeficiency v0.40 CD19 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.40 CD19 Bryony Thompson Gene: cd19 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.39 ATP6AP1 Bryony Thompson Classified gene: ATP6AP1 as Green List (high evidence)
Common Variable Immunodeficiency v0.39 ATP6AP1 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.39 ATP6AP1 Bryony Thompson Gene: atp6ap1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.38 ARHGEF1 Bryony Thompson Classified gene: ARHGEF1 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.38 ARHGEF1 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.38 ARHGEF1 Bryony Thompson Gene: arhgef1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.37 CR2 Bryony Thompson Classified gene: CR2 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.37 CR2 Bryony Thompson Added comment: Comment on list classification: On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Common Variable Immunodeficiency v0.37 CR2 Bryony Thompson Gene: cr2 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.36 ARHGEF1 Bryony Thompson Marked gene: ARHGEF1 as ready
Common Variable Immunodeficiency v0.36 ARHGEF1 Bryony Thompson Gene: arhgef1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.36 ARHGEF1 Bryony Thompson Classified gene: ARHGEF1 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.36 ARHGEF1 Bryony Thompson Gene: arhgef1 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.35 ARHGEF1 Bryony Thompson edited their review of gene: ARHGEF1: Changed phenotypes: Immunodeficiency 62 MIM#618459, ARHGEF1 deficiency
Common Variable Immunodeficiency v0.35 ARHGEF1 Bryony Thompson gene: ARHGEF1 was added
gene: ARHGEF1 was added to Common Variable Immunodeficiency. Sources: Expert list
Mode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARHGEF1 were set to 32048120; 30521495; 16286020
Review for gene: ARHGEF1 was set to AMBER
Added comment: Two siblings in a single family reported with compound heterozygous loss of function variants, with supporting assays in patient cells and in vitro. A null mouse model also demonstrates immunodeficiency. On the IUIS CVID phenotype gene list for human inborn errors of immunity.
Sources: Expert list
Common Variable Immunodeficiency v0.34 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from Recurrent infections, poor antibody responses, decreased immunoglobulins to Recurrent infections, poor antibody responses, decreased immunoglobulins
Common Variable Immunodeficiency v0.34 TNFSF12 Zornitza Stark Marked gene: TNFSF12 as ready
Common Variable Immunodeficiency v0.34 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.34 TNFSF12 Zornitza Stark Phenotypes for gene: TNFSF12 were changed from to Recurrent infections, poor antibody responses, decreased immunoglobulins
Common Variable Immunodeficiency v0.33 TNFSF12 Zornitza Stark Publications for gene: TNFSF12 were set to
Common Variable Immunodeficiency v0.32 TNFSF12 Zornitza Stark Mode of inheritance for gene: TNFSF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.31 TNFSF12 Zornitza Stark Classified gene: TNFSF12 as Red List (low evidence)
Common Variable Immunodeficiency v0.31 TNFSF12 Zornitza Stark Gene: tnfsf12 has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.30 TNFSF12 Zornitza Stark reviewed gene: TNFSF12: Rating: RED; Mode of pathogenicity: None; Publications: 23493554; Phenotypes: Recurrent infections, poor antibody responses, decreased immunoglobulins; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Common Variable Immunodeficiency v0.30 TNFRSF13C Zornitza Stark Marked gene: TNFRSF13C as ready
Common Variable Immunodeficiency v0.30 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.30 TNFRSF13C Zornitza Stark Phenotypes for gene: TNFRSF13C were changed from to Immunodeficiency, common variable, 4, MIM# 613494
Common Variable Immunodeficiency v0.29 TNFRSF13C Zornitza Stark Publications for gene: TNFRSF13C were set to
Common Variable Immunodeficiency v0.28 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.28 TNFRSF13C Zornitza Stark Mode of inheritance for gene: TNFRSF13C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.27 TNFRSF13C Zornitza Stark Classified gene: TNFRSF13C as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.27 TNFRSF13C Zornitza Stark Gene: tnfrsf13c has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.26 TNFRSF13C Zornitza Stark reviewed gene: TNFRSF13C: Rating: AMBER; Mode of pathogenicity: None; Publications: 19666484, 26613719; Phenotypes: Immunodeficiency, common variable, 4, MIM# 613494; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.26 TNFRSF13B Zornitza Stark Marked gene: TNFRSF13B as ready
Common Variable Immunodeficiency v0.26 TNFRSF13B Zornitza Stark Gene: tnfrsf13b has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.26 TNFRSF13B Zornitza Stark Phenotypes for gene: TNFRSF13B were changed from to Immunodeficiency, common variable, 2, MIM# 240500
Common Variable Immunodeficiency v0.25 TNFRSF13B Zornitza Stark Publications for gene: TNFRSF13B were set to
Common Variable Immunodeficiency v0.24 TNFRSF13B Zornitza Stark Mode of inheritance for gene: TNFRSF13B was changed from Unknown to Other
Common Variable Immunodeficiency v0.23 TNFRSF13B Zornitza Stark reviewed gene: TNFRSF13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17392798, 16007086, 18981294, 16007087; Phenotypes: Immunodeficiency, common variable, 2, MIM# 240500; Mode of inheritance: Other
Common Variable Immunodeficiency v0.23 NFKBID Zornitza Stark Marked gene: NFKBID as ready
Common Variable Immunodeficiency v0.23 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.23 NFKBID Zornitza Stark Publications for gene: NFKBID were set to
Common Variable Immunodeficiency v0.22 NFKBID Zornitza Stark Classified gene: NFKBID as Red List (low evidence)
Common Variable Immunodeficiency v0.22 NFKBID Zornitza Stark Gene: nfkbid has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.21 NFKBID Zornitza Stark reviewed gene: NFKBID: Rating: RED; Mode of pathogenicity: None; Publications: 26973645, 25347393, 22761313; Phenotypes: ; Mode of inheritance: None
Common Variable Immunodeficiency v0.21 MS4A1 Zornitza Stark Marked gene: MS4A1 as ready
Common Variable Immunodeficiency v0.21 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.21 MS4A1 Zornitza Stark Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495
Common Variable Immunodeficiency v0.20 MS4A1 Zornitza Stark Publications for gene: MS4A1 were set to
Common Variable Immunodeficiency v0.19 MS4A1 Zornitza Stark Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.18 MS4A1 Zornitza Stark Classified gene: MS4A1 as Red List (low evidence)
Common Variable Immunodeficiency v0.18 MS4A1 Zornitza Stark Gene: ms4a1 has been classified as Red List (Low Evidence).
Common Variable Immunodeficiency v0.17 MS4A1 Zornitza Stark reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.17 CR2 Zornitza Stark Marked gene: CR2 as ready
Common Variable Immunodeficiency v0.17 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.17 CR2 Zornitza Stark Phenotypes for gene: CR2 were changed from to Immunodeficiency, common variable, 7, MIM# 614699
Common Variable Immunodeficiency v0.16 CR2 Zornitza Stark Mode of inheritance for gene: CR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.15 CR2 Zornitza Stark Publications for gene: CR2 were set to
Common Variable Immunodeficiency v0.14 CR2 Zornitza Stark Classified gene: CR2 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.14 CR2 Zornitza Stark Gene: cr2 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.13 CR2 Zornitza Stark reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: None
Common Variable Immunodeficiency v0.13 CD81 Zornitza Stark Marked gene: CD81 as ready
Common Variable Immunodeficiency v0.13 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.13 CD81 Zornitza Stark Phenotypes for gene: CD81 were changed from to Immunodeficiency, common variable, 6, MIM# 613496
Common Variable Immunodeficiency v0.12 CD81 Zornitza Stark Publications for gene: CD81 were set to
Common Variable Immunodeficiency v0.11 CD81 Zornitza Stark Mode of inheritance for gene: CD81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.10 CD81 Zornitza Stark Classified gene: CD81 as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.10 CD81 Zornitza Stark Gene: cd81 has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.9 CD81 Zornitza Stark reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.9 ICOSLG Zornitza Stark Marked gene: ICOSLG as ready
Common Variable Immunodeficiency v0.9 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.9 ICOSLG Zornitza Stark Phenotypes for gene: ICOSLG were changed from to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia
Common Variable Immunodeficiency v0.8 ICOSLG Zornitza Stark Publications for gene: ICOSLG were set to
Common Variable Immunodeficiency v0.7 ICOSLG Zornitza Stark Mode of inheritance for gene: ICOSLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.6 ICOSLG Zornitza Stark Classified gene: ICOSLG as Amber List (moderate evidence)
Common Variable Immunodeficiency v0.6 ICOSLG Zornitza Stark Gene: icoslg has been classified as Amber List (Moderate Evidence).
Common Variable Immunodeficiency v0.5 ICOSLG Zornitza Stark reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 31532372, 30498080; Phenotypes: Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Common Variable Immunodeficiency v0.5 Zornitza Stark Panel name changed from Common Variable Immunodeficiency_MelbourneGenomics_VCGS to Common Variable Immunodeficiency
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Marked gene: ATP6AP1 as ready
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Classified gene: ATP6AP1 as Green List (high evidence)
Common Variable Immunodeficiency v0.4 ATP6AP1 Zornitza Stark Gene: atp6ap1 has been classified as Green List (High Evidence).
Common Variable Immunodeficiency v0.3 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Common Variable Immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP1 were set to 27231034
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972
Review for gene: ATP6AP1 was set to GREEN
Added comment: 11 patients from 6 families reported.
Sources: Expert list
Common Variable Immunodeficiency v0.1 Zornitza Stark Panel name changed from Common Variable Immunodeficiency_MGHA_AGHA_VCGS to Common Variable Immunodeficiency_MelbourneGenomics_VCGS
Common Variable Immunodeficiency v0.0 TTC37 Zornitza Stark gene: TTC37 was added
gene: TTC37 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TTC37 was set to Unknown
Common Variable Immunodeficiency v0.0 TRNT1 Zornitza Stark gene: TRNT1 was added
gene: TRNT1 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TRNT1 was set to Unknown
Common Variable Immunodeficiency v0.0 TNFSF12 Zornitza Stark gene: TNFSF12 was added
gene: TNFSF12 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TNFSF12 was set to Unknown
Common Variable Immunodeficiency v0.0 TNFRSF13C Zornitza Stark gene: TNFRSF13C was added
gene: TNFRSF13C was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TNFRSF13C was set to Unknown
Common Variable Immunodeficiency v0.0 TNFRSF13B Zornitza Stark gene: TNFRSF13B was added
gene: TNFRSF13B was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TNFRSF13B was set to Unknown
Common Variable Immunodeficiency v0.0 TCF3 Zornitza Stark gene: TCF3 was added
gene: TCF3 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: TCF3 was set to Unknown
Common Variable Immunodeficiency v0.0 PRKCD Zornitza Stark gene: PRKCD was added
gene: PRKCD was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PRKCD was set to Unknown
Common Variable Immunodeficiency v0.0 PIK3CD Zornitza Stark gene: PIK3CD was added
gene: PIK3CD was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: PIK3CD was set to Unknown
Common Variable Immunodeficiency v0.0 NFKBID Zornitza Stark gene: NFKBID was added
gene: NFKBID was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKBID was set to Unknown
Common Variable Immunodeficiency v0.0 NFKB2 Zornitza Stark gene: NFKB2 was added
gene: NFKB2 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKB2 was set to Unknown
Common Variable Immunodeficiency v0.0 NFKB1 Zornitza Stark gene: NFKB1 was added
gene: NFKB1 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: NFKB1 was set to Unknown
Common Variable Immunodeficiency v0.0 MS4A1 Zornitza Stark gene: MS4A1 was added
gene: MS4A1 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MS4A1 was set to Unknown
Common Variable Immunodeficiency v0.0 MAP3K14 Zornitza Stark gene: MAP3K14 was added
gene: MAP3K14 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: MAP3K14 was set to Unknown
Common Variable Immunodeficiency v0.0 IKZF1 Zornitza Stark gene: IKZF1 was added
gene: IKZF1 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: IKZF1 was set to Unknown
Common Variable Immunodeficiency v0.0 ICOSLG Zornitza Stark gene: ICOSLG was added
gene: ICOSLG was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ICOSLG was set to Unknown
Common Variable Immunodeficiency v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: ICOS was set to Unknown
Common Variable Immunodeficiency v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CXCR4 was set to Unknown
Common Variable Immunodeficiency v0.0 CTLA4 Zornitza Stark gene: CTLA4 was added
gene: CTLA4 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CTLA4 was set to Unknown
Common Variable Immunodeficiency v0.0 CR2 Zornitza Stark gene: CR2 was added
gene: CR2 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CR2 was set to Unknown
Common Variable Immunodeficiency v0.0 CD81 Zornitza Stark gene: CD81 was added
gene: CD81 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD81 was set to Unknown
Common Variable Immunodeficiency v0.0 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD27 was set to Unknown
Common Variable Immunodeficiency v0.0 CD19 Zornitza Stark gene: CD19 was added
gene: CD19 was added to Common Variable Immunodeficiency_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship
Mode of inheritance for gene: CD19 was set to Unknown
Common Variable Immunodeficiency v0.0 Zornitza Stark Added panel Common Variable Immunodeficiency_MGHA_AGHA_VCGS