PanelApp (staging)
  1. Panels
  2. Common Variable Immunodeficiency
Description
This panel contains genes that are associated with common variable immunodeficiency (CVID) and CVID-like disorders, characterised by reduced immunoglobulin levels. It contains all the genes reported by the International Union of Immunological Societies (IUIS) 2019 update for the CVID phenotype subcategory of human inborn errors of immunity (PMID: 32048120).

The original panel (17 Nov 2019) was developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital). It is currently maintained by VCGS and is a consensus panel used by RMH.
Panel Activity

4 reviewers

  • Peter McNaughton (Queensland Children's Hospital)

  • Achchuthan Shanmugasundram (Genomics England)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

38 Entities

38 reviewed, 27 green

List Entity Reviews Mode of inheritance Details
38 Entitiess
Green Green List (high evidence)
ADA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
  • common variable immunodeficiency
Tags
Green Green List (high evidence)
ATP6AP1
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 47, MIM#300972
Tags
Green Green List (high evidence)
CD19
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 3, MIM#613493
Tags
Green Green List (high evidence)
CD27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphoproliferative syndrome 2
  • CD27-deficiency MIM# 615122
  • hepatosplenomegaly
  • reduced CD8+ T-cell function
  • lymphadenopathy
  • hepatosplenomegaly
  • fever
  • increased susceptibility to EBV infection
  • aplastic anaemia
Tags
Green Green List (high evidence)
CD81
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 6, MIM# 613496
Tags
Green Green List (high evidence)
CR2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 7, MIM# 614699
Tags
Green Green List (high evidence)
CTLA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
Tags
Green Green List (high evidence)
CXCR4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • WHIM syndrome, MIM# 193670
Tags
Green Green List (high evidence)
ICOS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
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
Tags
Green Green List (high evidence)
IKZF1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
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
Tags
Green Green List (high evidence)
IRF2BP2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 14 MIM#617765
Tags
Green Green List (high evidence)
LRBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Tags
Green Green List (high evidence)
MAP3K14
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 112, MIM# 620449
Tags
Green Green List (high evidence)
MOGS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIb MIM#606056
  • Mannosyl-oligosaccharide glucosidase deficiency (MOGS)
Tags
Green Green List (high evidence)
NFKB1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
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
Tags
Green Green List (high evidence)
NFKB2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
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
Tags
Green Green List (high evidence)
PIK3CD
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 14B, autosomal recessive, MIM# 619281
  • Immunodeficiency 14A, autosomal dominant, MIM# 615513
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 36 MIM#616005
Tags
Green Green List (high evidence)
PLCG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Common variable immunodeficiency
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Tags
Green Green List (high evidence)
PRKCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type III, MIM# 615559
  • CVID 9
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Macrocephaly/autism syndrome MIM#605309
  • Cowden syndrome 1 MIM#158350
  • Skewed immune repertoire composition
Tags
Green Green List (high evidence)
SEC61A1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 15, MIM# 620670
Tags
Green Green List (high evidence)
SOCS1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375
  • Common variable immunodeficiency
Tags
Green Green List (high evidence)
TCF3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
  • Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Tags
Green Green List (high evidence)
TNFRSF13B
2 reviews
1 green 		Other
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 2, MIM# 240500
Tags
Green Green List (high evidence)
TRNT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084
Tags
Green Green List (high evidence)
TTC37
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichohepatoenteric syndrome 1, MIM# 222470
  • Respiratory infections
  • IUGR
  • Facial dysmorphic features
  • Wooly hair:Early-onset intractable diarrhoea
  • Liver cirrhosis
  • Platelet abnormalities
Tags
Amber Amber List (moderate evidence)
ARHGEF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
BLK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • common variable immunodeficiency
Tags
Amber Amber List (moderate evidence)
CTNNBL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
Tags
Amber Amber List (moderate evidence)
ICOSLG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • recurrent bacterial and viral infections
  • neutropaenia
Tags
Amber Amber List (moderate evidence)
MS4A1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 5, MIM# 613495
Tags
Amber Amber List (moderate evidence)
RAC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Common variable immunodeficiency
Tags
Amber Amber List (moderate evidence)
TNFRSF13C
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 4, MIM# 613494
Tags
Red Red List (low evidence)
IL21
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Immunodeficiency, common variable, 11 MIM#615767
Tags
Red Red List (low evidence)
NFKBID
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
TNFSF12
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent infections, poor antibody responses, decreased immunoglobulins
Tags
Red Red List (low evidence)
VAV1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Common variable immnodeficiency
Tags

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