PanelApp (stage)
  1. Panels
  2. Phagocyte Defects
Description
This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood.

This panel was originally 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. 

Updated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al.

This panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).
Panel Activity

6 reviewers

  • Pasquale Barbaro (University of Sydney)

  • Peter McNaughton (Queensland Children's Hospital)

  • Achchuthan Shanmugasundram (Genomics England)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

53 Entities

53 reviewed, 44 green

List Entity Reviews Mode of inheritance Details
53 Entitiess
Green Green List (high evidence)
C17orf62
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Tags
  • new gene name
Green Green List (high evidence)
CEBPE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Specific granule deficiency, MIM# 245480
Tags
Green Green List (high evidence)
CFTR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cystic fibrosis, MIM# 219700
Tags
Green Green List (high evidence)
CLPB
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
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
  • Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Tags
Green Green List (high evidence)
CSF2RA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770
Tags
Green Green List (high evidence)
CSF2RB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370
Tags
Green Green List (high evidence)
CSF3R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
Tags
Green Green List (high evidence)
CTSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Papillon-Lefevre syndrome, MIM# 245000
Tags
Green Green List (high evidence)
CXCR2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • WHIM syndrome 2 619407
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 1, MIM# 193670
Tags
Green Green List (high evidence)
CYBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease 4, autosomal recessive, MIM# 233690
  • MONDO:0009308
Tags
Green Green List (high evidence)
CYBB
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease, X-linked, MIM# 306400
Tags
Green Green List (high evidence)
DNAJC21
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 3, MIM# 617052
  • Short stature
  • Exocrine pancreatic insufficiency
  • Pancytopaenia
  • Shwachman-Diamond syndrome
Tags
Green Green List (high evidence)
EFL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Shwachman-Diamond syndrome 2, MIM# 617941
Tags
Green Green List (high evidence)
ELANE
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
  • Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
  • Neutropaenia, cyclic, MIM# 162800
Tags
Green Green List (high evidence)
FERMT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukocyte adhesion deficiency, type III, MIM# 612840
Tags
Green Green List (high evidence)
G6PC3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541
  • MONDO:0012930
  • Dursun syndrome, MIM# 612541
Tags
Green Green List (high evidence)
G6PD
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Tags
Green Green List (high evidence)
GATA2
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
  • Emberger syndrome, MIM# 614038
Tags
Green Green List (high evidence)
GFI1
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
  • Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Tags
  • treatable
Green Green List (high evidence)
HAX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
  • Kostmann syndrome MONDO:0012548
Tags
Green Green List (high evidence)
HYOU1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 59 and hypoglycemia, MIM# 233600
Tags
Green Green List (high evidence)
ITGB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukocyte adhesion deficiency, MIM# 116920
Tags
Green Green List (high evidence)
JAGN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022
Tags
Green Green List (high evidence)
MPEG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 77, MIM# 619223
Tags
Green Green List (high evidence)
MSN
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 50, MIM# 300988
Tags
Green Green List (high evidence)
NCF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease 1, autosomal recessive, MIM# 233700
Tags
Green Green List (high evidence)
NCF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Tags
Green Green List (high evidence)
NCF4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Tags
Green Green List (high evidence)
OTULIN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Tags
Green Green List (high evidence)
RAC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutrophil immunodeficiency syndrome, MIM# 608203
  • Common variable immunodeficiency
Tags
Green Green List (high evidence)
SBDS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Diamond syndrome, MIM# 260400
Tags
Green Green List (high evidence)
SEC61A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
  • Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
  • Immunodeficiency, common variable, 15, MIM# 620670
Tags
Green Green List (high evidence)
SENP7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Tags
Green Green List (high evidence)
SLC35C1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Tags
Green Green List (high evidence)
SLC37A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease Ib, MIM# 232220
Tags
Green Green List (high evidence)
SMARCD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Specific granule deficiency 2, MIM# 617475
  • Neutropaenia
  • Neurodevelopmental abnormalities in some
  • Myelodysplasia
Tags
Green Green List (high evidence)
SRP54
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Tags
Green Green List (high evidence)
TAZ
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome, MIM# 302060
Tags
Green Green List (high evidence)
USB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Poikiloderma with neutropaenia, MIM# 604173
  • MONDO:0011405
Tags
Green Green List (high evidence)
VPS13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Cohen syndrome, MIM# 216550
Tags
Green Green List (high evidence)
VPS45
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285
Tags
  • treatable
Green Green List (high evidence)
WAS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropaenia, severe congenital, X-linked, MIM# 300299
Tags
Green Green List (high evidence)
WDR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
  • Neutropaenia
  • Poor wound healing
  • Severe stomatitis
  • Neutrophil nuclei herniate
  • Autoinflammatory periodic fever
  • Thrombocytopaenia
Tags
Amber Amber List (moderate evidence)
ACTB
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Baraitser-Winter syndrome 1, MIM# 243310
Tags
Amber Amber List (moderate evidence)
LAMTOR2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
Tags
Amber Amber List (moderate evidence)
MKL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Neutropaenia with combined immune deficiency
Tags
Amber Amber List (moderate evidence)
SRP19
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neutropenia, MONDO:0001475, SRP19-related
Tags
Amber Amber List (moderate evidence)
SRP68
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534
Tags
Amber Amber List (moderate evidence)
SRPRA
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Schwachman-Diamond syndrome MONDO:0009833, SRPA-related
Tags
Amber Amber List (moderate evidence)
TCIRG1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • severe congenital neutropenia, MONDO:0018542
Tags
Amber Amber List (moderate evidence)
WIPF1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiskott-Aldrich syndrome 2, MIM# 614493
Tags
Red Red List (low evidence)
FPR1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodontitis
Tags

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