Description
This panel represents V0.35 of a Super panel of the PanelApp Australia Immunological panels, as provided by Zornitza Stark on April 6. 2020.

The panel includes PanelApp-Australia Inflammatory Bowel Disease panel, but not the Bone Marrow Failure panel. 

For the current PanelApp Australia panels, visit: https://panelapp.agha.umccr.org/
Panel Activity

2 reviewers

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

370 Entities

2 reviewed, 332 green

List Entity Reviews Mode of inheritance Details
370 Entitiess
Green Green List (high evidence)
ACP5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • SLE, thrombocytopenia and autoimmune haemolytic anaemia
  • Spondyloenchondrodysplasia with immune dysregulation, MIM#607944
  • Possibly recurrent bacterial and viral infections
  • Short stature
Tags
Green Green List (high evidence)
ACTB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADA2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADAM17
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADAR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 6, MIM#615010
Tags
Green Green List (high evidence)
AICDA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AIRE
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Tags
Green Green List (high evidence)
AK2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AP1S3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AP3B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
APOL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ARPC1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718
Tags
Green Green List (high evidence)
ATM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ATP6AP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hepatopathy
  • Leukopenia
  • Immunodeficiency 47, MIM# 300972
  • Low copper
Tags
Green Green List (high evidence)
B2M
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BACH2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • inflammatory bowel disease
  • Immunodeficiency 60, MIM#618394
  • recurrent sinopulmonary infections
Tags
Green Green List (high evidence)
BCL10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BCL11B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM#618092
  • Immunodeficiency 49, MIM#617237
Tags
Green Green List (high evidence)
BLM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BLNK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BLOC1S6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BTK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C17orf62
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease
Tags
Green Green List (high evidence)
C1QA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C1QB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C1QC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C1R
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C1S
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C4A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C4B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C8A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C8B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C8G
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
C9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CARD11
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM#617638
  • Immunodeficiency 11A, autosomal recessive, MIM#615206
Tags
Green Green List (high evidence)
CARD14
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CARD9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CARMIL2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 58, MIM#618131
Tags
Green Green List (high evidence)
CASP10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CASP8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CCBE1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD27
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome 2, MIM#615122
Tags
Green Green List (high evidence)
CD3D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD3E
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD3G
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD40
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3, MIM#606843
Tags
Green Green List (high evidence)
CD40LG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD46
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD55
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM#226300
Tags
Green Green List (high evidence)
CD59
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD70
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome 3, MIM#618261
Tags
Green Green List (high evidence)
CD79A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD79B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD81
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD8A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CDCA7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM#616910
Tags
Green Green List (high evidence)
CEBPE
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFI
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CHD7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CIB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis 3618267
  • HPV infections and cancer of the skin
Tags
Green Green List (high evidence)
CIITA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CLPB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COL7A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COPA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CORO1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CSF2RA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CSF3R
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CTLA4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CTPS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • EBV lymphoproliferation
  • Immunodeficiency 24, MIM#615897
  • B-cell non-Hodgkin lymphoma
  • Recurrent/chronic bacterial and viral infections (EBV, VZV)
Tags
Green Green List (high evidence)
CTSC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CXCR4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CYBA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CYBB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DBR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Viral infections of the brainstem
Tags
Green Green List (high evidence)
DCLRE1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DCLRE1C
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DKC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DNAJC21
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 3, MIM#617052
  • Exocrine pancreatic insufficiency
  • Shwachman-Diamond syndrome
  • Short stature
  • Pancytopaenia
Tags
Green Green List (high evidence)
DNASE1L3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Systemic lupus erythematosus 16, MIM#614420
Tags
Green Green List (high evidence)
DNASE2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • liver fibrosis
  • HLH
  • Auto-inflammatory disorder
  • splenomegaly
  • glomerulonephritis
  • arthritis
Tags
Green Green List (high evidence)
DNMT3B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DOCK2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DOCK8
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
EFL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Shwachman-Diamond syndrome 2, MIM#617941
Tags
Green Green List (high evidence)
ELANE
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
EPCAM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
EPG5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERCC2
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERCC3
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ERCC6L2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 2, MIM#615715
Tags
Green Green List (high evidence)
EXTL3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425
Tags
Green Green List (high evidence)
F12
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FADD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FASLG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAT4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Low/variable T and B cells
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Hennekam lymphangiectasia-lymphedema syndrome 2, MIM#616006
Tags
Green Green List (high evidence)
FCGR3A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FCHO1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Increased activation-induced T-cell death
  • B cells: normal number
  • Combined immunodeficiency
  • Defective clathrin-mediated endocytosis
  • lymphoproliferation
  • Recurrent infections (viral, mycobacteria, bacterial, fungal)
  • Failure to thrive
  • T cells: low, poor proliferation
Tags
Green Green List (high evidence)
FCN3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FERMT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FERMT3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FOXN1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FOXP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FPR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
G6PC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
G6PD
0 reviews
 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
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GFI1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GINS1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 55, MIM#617827
Tags
Green Green List (high evidence)
GTF2H5
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GUCY2C
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HAVCR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • T-cell lymphoma, subcutaneous panniculitis-like, MIM#618398
Tags
Green Green List (high evidence)
HAX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HELLS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911
Tags
Green Green List (high evidence)
HPS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPS4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPS6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HTRA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, MIM#617248
Tags
Green Green List (high evidence)
ICOS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFIH1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Rhinovirus and other RNA viruses
  • Severe viral respiratory infections
Tags
Green Green List (high evidence)
IFNGR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IFNGR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IGHM
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Agammaglobulinemia 1, MIM#601495
Tags
Green Green List (high evidence)
IGLL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IKBKB
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 15A, autosomal dominant, MIM#618204
  • Immunodeficiency 15B, autosomal recessive, MIM#615592
Tags
Green Green List (high evidence)
IKBKG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IKZF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Decreased pro-B cells
  • Increased risk of ALL, autoimmunity
  • Immunodeficiency, common variable, 13, MIM#616873
  • Recurrent sinopulmonary infections
  • B cells and Ig levels reduce with age
  • Low IgG, IgA, IgM, low or normal B cells
Tags
Green Green List (high evidence)
IL10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL10RA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL10RB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL12B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL12RB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL17F
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL17RA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL17RC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL1RN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL21
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL21R
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL2RA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL2RB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM#618495
Tags
Green Green List (high evidence)
IL2RG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL36RN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IL6ST
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyper-IgE syndrome, autosomal dominant
  • Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response
  • Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#618523
Tags
Green Green List (high evidence)
IL7R
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
INO80
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IRAK4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IRF7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
IRF8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ISG15
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ITCH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ITGAM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ITGB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ITK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lymphoproliferative syndrome 1, MIM#613011
  • EBV associated B call lymphoproliferation, lymphoma
Tags
Green Green List (high evidence)
JAGN1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
JAK3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LAMTOR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 52, MIM#617514
Tags
Green Green List (high evidence)
LCK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LIG1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency
  • Macrocytosis
  • Growth retardation
  • Hypogammaglobulinaemia
  • Recurrent bacterial and viral infections
  • Sun sensitivity, radiation sensitivity
  • Lymphopaenia
Tags
Green Green List (high evidence)
LIG4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LPIN2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LRBA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Recurrent infections
  • Inflammatory bowel disease
  • Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700
  • Autoimmunity
  • EBV infections
Tags
Green Green List (high evidence)
LYST
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MAGT1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM#300853
Tags
Green Green List (high evidence)
MALT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MAP3K14
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MASP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MCM4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MEFV
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MOGS
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bacterial and viral infections
  • Severe hypogammaglobulinaemia
  • Severe neurologic disease
  • Congenital disorder of glycosylation, type IIb, MIM#606056
Tags
Green Green List (high evidence)
MS4A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MSN
0 reviews
 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)
MTHFD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MVK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MYD88
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MYSM1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 4, MIM#618116
Tags
Green Green List (high evidence)
NBN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nijmegen breakage syndrome, MIM#251260
Tags
Green Green List (high evidence)
NCF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NCF2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NCF4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NFAT5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NFE2L2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#617744
  • Growth retardation
  • White matter cerebral lesions
  • Developmental delay, borderline ID
  • Recurrent respiratory and skin infection
Tags
Green Green List (high evidence)
NFKB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NFKB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NFKBIA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NFKBID
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NHEJ1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NHP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NLRC4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NLRP1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Autoinflammation with arthritis and dyskeratosis, MIM#617388
  • Recurrent respiratory papillomatosis
  • Palmoplantar carcinoma, multiple self-healing, 615225
Tags
Green Green List (high evidence)
NLRP12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NLRP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NOD2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
OAS1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • infantile-onset pulmonary alveolar proteinosis
  • hypogammaglobulinemia
Tags
Green Green List (high evidence)
ORAI1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
OTULIN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PARN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PAX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Otofaciocervical syndrome 2, MIM#615560
  • dysmorphism
  • ear abnormalities
  • Syndromic SCID
Tags
Green Green List (high evidence)
PEPD
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Prolidase deficiency, MIM#170100
Tags
Green Green List (high evidence)
PGM3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PIK3CD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 14, MIM#615513
Tags
Green Green List (high evidence)
PIK3R1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PLCG2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PMS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mismatch repair cancer syndrome, MIM#276300
Tags
Green Green List (high evidence)
PNP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
POLA1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220
Tags
Green Green List (high evidence)
POLE
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PRF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PRKCD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PSMA3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PSMB4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PSMB8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PSMB9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PSTPIP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTEN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PTPRC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAB27A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAC2
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • neutropaenia
  • lymphoproliferation
  • SCID
  • Reduced Ab responses following vaccination
  • recurrent bacterial and viral infections
  • selective IgA deficiency
  • deafness
  • reticular dysgenesis
Tags
Green Green List (high evidence)
RAG1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RAG2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RASGRP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 64, MIM#618534
Tags
Green Green List (high evidence)
RBCK1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RFX5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RFXANK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RFXAP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RHOH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RIPK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 57, MIM#618108
Tags
Green Green List (high evidence)
RMRP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RNASEH2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 4, MIM#610333
Tags
Green Green List (high evidence)
RNASEH2B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 2, MIM#610181
Tags
Green Green List (high evidence)
RNASEH2C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 3, MIM#610329
Tags
Green Green List (high evidence)
RNF168
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RNF31
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RORC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RPSA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Asplenia, isolated congenital, MIM#271400
Tags
Green Green List (high evidence)
RTEL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SAMD9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 5, MIM#612952
Tags
Green Green List (high evidence)
SBDS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SEC61A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Severe recurrent respiratory tract infections
  • Hypogammaglobulinaemia
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM#617056
Tags
Green Green List (high evidence)
SEMA3E
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SERPING1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SH2D1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SH3BP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SKIV2L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Facial dysmorphic features
  • Platelet abnormalities
  • IUGR
  • Early-onset intractable diarrhoea
  • Trichohepatoenteric syndrome 2, MIM#614602
  • Wooly hair
  • Respiratory infections
  • Liver cirrhosis
Tags
Green Green List (high evidence)
SLC29A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC35C1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC37A4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC39A7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • thrombocytopaenia
  • Antibody deficiency
  • blistering dermatosis
  • early onset infections
  • failure to thrive
Tags
Green Green List (high evidence)
SLC46A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC7A7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lysinuric protein intolerance, MIM#222700
  • Hyper-inflammatory response of macrophages
  • Bleeding tendency
  • Alverolar proteinosis
  • Normal NK cell function
  • Lysinuric protein intolerance
Tags
Green Green List (high evidence)
SMARCAL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMARCD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neurodevelopmental abnormalities in some
  • Neutropaenia
  • Specific granule deficiency 2, MIM#617475
  • Myelodysplasia
Tags
Green Green List (high evidence)
SP110
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SPINK5
0 reviews
 Unknown
Sources
  • Australian Genomics Health Alliance Immunology Flagship
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SRP54
0 reviews
 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)
STAT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Predisposition to Mucocutaneous Candidiasis
  • Immunodeficiency 31C, autosomal dominant, MIM#614162
Tags
Green Green List (high evidence)
STAT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STAT3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STAT5B
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth hormone insensitivity with immunodeficiency, MIM#245590
Tags
Green Green List (high evidence)
STIM1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STK4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STX11
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STXBP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TAP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TAP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TAPBP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TAZ
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TBK1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TBX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TCF3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TCN2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TERC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TERT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TGFBR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
THBD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TICAM1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TINF2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TLR3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TMC6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TMC8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TMEM173
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, MIM#615934
Tags
Green Green List (high evidence)
TNFAIP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TNFRSF13B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TNFRSF13C
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TNFRSF1A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodic fever, familial, MIM#142680
Tags
Green Green List (high evidence)
TNFRSF4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TNFRSF9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • EBV lymphoproliferation
  • Chronic active EBV infection
  • B-cell lymphoma
Tags
Green Green List (high evidence)
TNFSF12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TOP2B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Facial dysmorphism
  • Antibody deficiency
  • Recurrent infections
  • Limb anomalies
Tags
Green Green List (high evidence)
TPP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TPP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRAC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Tags
Green Green List (high evidence)
TRAF3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRAF3IP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TREX1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive225750
  • {Systemic lupus erythematosus, susceptibility to}152700
Tags
Green Green List (high evidence)
TRIM22
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Inflammatory bowel disease
Tags
Green Green List (high evidence)
TRNT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TTC37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Facial dysmorphic features
  • Platelet abnormalities
  • IUGR
  • Respiratory infections
  • Trichohepatoenteric syndrome 1, MIM#222470
  • Liver cirrhosis
  • Wooly hair:Early-onset intractable diarrhoea
Tags
Green Green List (high evidence)
TTC7A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
Tags
Green Green List (high evidence)
TYK2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
UNC13D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
UNC93B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
UNG
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
USB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Poikiloderma with neutropenia (OMIM #604173)
Tags
Green Green List (high evidence)
USP18
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudo-TORCH syndrome 2, MIM#617397
Tags
Green Green List (high evidence)
VPS13B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
VPS45
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WAS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WDR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Poor wound healing
  • Neutropaenia
  • Severe stomatitis
  • Neutrophil nuclei herniate
Tags
Green Green List (high evidence)
WIPF1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
XIAP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ZAP70
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
  • Immunodeficiency 48, MIM# 269840
Tags
Green Green List (high evidence)
ZBTB24
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ZNF341
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM#618282
  • Mild facial dysmorphism
  • Recurrent respiratory infections, lung abscesses and pneumothoraces
  • Early onset eczema
  • Hyperextensible joints, bone fractures, retention of primary teeth
  • Recurrent bacterial skin infections, abscesses
Tags
Amber Amber List (moderate evidence)
ALPI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Inflammatory bowel disease
Tags
Amber Amber List (moderate evidence)
DEF6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Systemic autoimmunity
Tags
Amber Amber List (moderate evidence)
ERBIN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Susceptibility to S.aureus
  • Scoliosis
  • Eczema
  • Arterial dilatation in some
  • Recurrent respiratory infections
  • Hyperextensible joints
Tags
Amber Amber List (moderate evidence)
HMOX1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Asplenia
  • Heme oxygenase-1 deficiency, MIM#614034
Tags
Amber Amber List (moderate evidence)
ICOSLG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • neutropaenia
  • Combined immunodeficiency
  • recurrent bacterial and viral infections
Tags
Amber Amber List (moderate evidence)
IFNAR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Severe disease caused by Yellow Fever vaccine and Measles vaccine
Tags
Amber Amber List (moderate evidence)
IL6R
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • High circulating IL-6 levels
  • Recurrent pyogenic infections, cold abscesses
  • High IgE
Tags
Amber Amber List (moderate evidence)
IRF3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM#616532
Tags
Amber Amber List (moderate evidence)
IRF9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 65, susceptibility to viral infections, 618648
Tags
Amber Amber List (moderate evidence)
JAK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Susceptibility to mycobacteria and viruses
Tags
Amber Amber List (moderate evidence)
MKL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Neutropaenia with combined immune deficiency
Tags
Amber Amber List (moderate evidence)
NSMCE3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
Tags
Amber Amber List (moderate evidence)
POLD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • short stature
  • intellectual disability
  • Low CD4 T cells
  • Low B cells, normal maturation
  • recurrent respiratory tract infections, skin infections, warts and molluscum
Tags
Amber Amber List (moderate evidence)
POLR3A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Severe VZV infection
Tags
Amber Amber List (moderate evidence)
POLR3C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Severe VZV infection
Tags
Amber Amber List (moderate evidence)
RELA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • reduced production of inflammatory cytokines
  • autoimmune cytopaenias
  • Impaired NFkB activation
  • Mucocutaneous ulceration, chronic, MIM#618287
Tags
Amber Amber List (moderate evidence)
RELB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 53, MIM#617585
  • T cells: normal number, poor diversity, poor function
  • recurrent infections
Tags
Amber Amber List (moderate evidence)
SPPL2A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
Tags
Amber Amber List (moderate evidence)
TFRC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • thrombocytopaenia
  • recurrent infections, neutorpaenia
  • Immunodeficiency 46, MIM#616740
  • B cells: normal number, low memory B cells
  • T cells: normal number, poor proliferation
Tags
Amber Amber List (moderate evidence)
TGFB1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM#618213
Tags
Red Red List (low evidence)
AP3D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Severe neutropaenia
  • Recurrent infections
  • Neurodevelopmental delay
  • Seizures
  • Oculocutaneous albinism
  • Hermansky-Pudlak syndrome 10, MIM#617050
  • Hearing loss
Tags
Red Red List (low evidence)
ARHGEF1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Immunodeficiency 62, MIM#618459
Tags
Red Red List (low evidence)
CD247
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Normal NK cells
  • Absent T cells
  • Normal B cells
  • Immunodeficiency 25, MIM#610163
Tags
Red Red List (low evidence)
FAAP24
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • EBV infection-driven lymphoproliferative disease
Tags
Red Red List (low evidence)
HYOU1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency 59 and hypoglycemia, MIM#233600
Tags
Red Red List (low evidence)
IFNAR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency 45, MIM#616669
Tags
Red Red List (low evidence)
IL12RB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
Tags
Red Red List (low evidence)
IL23R
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
Tags
Red Red List (low evidence)
IRAK1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Susceptibility to bacterial infections
Tags
Red Red List (low evidence)
IRF2BP2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 14, MIM#617765
Tags
Red Red List (low evidence)
NOP10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Tags
Red Red List (low evidence)
POLD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • short stature
  • intellectual disability
  • Low CD4 T cells
  • Low B cells, normal maturation
  • recurrent respiratory tract infections, skin infections, warts and molluscum
Tags
Red Red List (low evidence)
POLE2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Combined immunodeficiency
  • Facial dysmorphism
  • Hypoglobulinaemia
  • Autoimmunity
  • Recurrent infections, disseminated BCG infections
  • Lymphopaenia
  • Lack of TRECS, absent proliferation in response to antigens
Tags
Red Red List (low evidence)
POLR3F
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Severe VZV infection
Tags
Red Red List (low evidence)
PSMG2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • CANDLE syndrome
  • Chronic atypical neutrophilic dermatitis with lipodystrophy
Tags
Red Red List (low evidence)
REL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • B cells: low, mostly naive, few switched memory B cells, impaired proliferation
  • Combined immunodeficiency
  • Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms
  • T cells: normal, decreased memory CD4, poor proliferation
  • Defective innate immunity
Tags
Red Red List (low evidence)
SH3KBP1
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Immunodeficiency 61, MIM#300310
Tags
Red Red List (low evidence)
TIRAP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Staphylococcal disease during childhood
Tags

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