Disorders of immune dysregulation (Version 1.5)

Description

This panel contains genes that cause diseases of immune dysregulation, including:
- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
- FHL Syndromes with Hypopigmentation
- Regulatory T Cell Defects
- Autoimmunity with or without Lymphoproliferation
- Immune Dysregulation with Colitis
- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)
- Susceptibility to EBV and Lymphoproliferative Conditions

Updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.

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).

Panel Activity

24 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Natasha Brown (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Belinda Chong (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Peter McNaughton (Queensland Children's Hospital)
Ain Roesley (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Crystle Lee (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

105 Entities

105 reviewed, 84 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 105 Entitiess
Green Green List (high evidence)	ACP5	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ADA2	2 reviews 2 green	Unknown	Sources Expert Review Green Literature Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ADAR	1 review 1 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	AIRE	2 reviews 2 green	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)	AP3B1	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags clinical trial treatable
Green Green List (high evidence)	AP3D1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hermansky-Pudlak syndrome 10, MIM# 617050 Oculocutaneous albinism Severe neutropaenia Recurrent infections Seizures Hearing loss Neurodevelopmental delay Tags
Green Green List (high evidence)	ARPC5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Immunodeficiency 133 with autoimmunity and autoinflammation MIM#620565 Tags
Green Green List (high evidence)	BACH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 60, MIM# 618394 inflammatory bowel disease recurrent sinopulmonary infections Tags
Green Green List (high evidence)	BLOC1S6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 9, MIM# 614171 Tags
Green Green List (high evidence)	CARMIL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 58, MIM# 618131 Tags
Green Green List (high evidence)	CASP10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type II MIM#603909 Tags
Green Green List (high evidence)	CBLB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 Tags
Green Green List (high evidence)	CD27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphoproliferative syndrome 2, MIM# 615122 Tags
Green Green List (high evidence)	CD70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphoproliferative syndrome 3, MIM# 618261 Tags treatable
Green Green List (high evidence)	COL4A3BP	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder 34 (MIM#616351) Tags new gene name
Green Green List (high evidence)	CTLA4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	CTPS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 24, MIM# 615897 Recurrent/chronic bacterial and viral infections (EBV, VZV) EBV lymphoproliferation B-cell non-Hodgkin lymphoma Tags
Green Green List (high evidence)	DEF6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 87 and autoimmunity, MIM# 619573 Systemic autoimmunity Tags
Green Green List (high evidence)	DOCK11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Tags
Green Green List (high evidence)	DPP9	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes hatipoglu immunodeficiency syndrome MONDO:0957229 Tags
Green Green List (high evidence)	ELF4	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Tags
Green Green List (high evidence)	FADD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes FADD-related immunodeficiency MONDO:0013408 Tags
Green Green List (high evidence)	FAS	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FASLG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes autoimmune lymphoproliferative syndrome MONDO:0017979 Tags
Green Green List (high evidence)	FERMT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Kindler syndrome MONDO:0008260 Tags
Green Green List (high evidence)	FOXP3	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	GATA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Tags treatable
Green Green List (high evidence)	GIMAP5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes portal hypertension, noncirrhotic, 2 MONDO:0030397 Tags
Green Green List (high evidence)	GIMAP6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome MONDO:0019751, GIMAP6-related Tags
Green Green List (high evidence)	HAVCR2	2 reviews 2 green	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)	IFIH1	3 reviews 3 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IKZF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Immune dysregulation Tags
Green Green List (high evidence)	IKZF2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency, MONDO:0021094, IKZF2-related Immune dysregulation Tags
Green Green List (high evidence)	IL10	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL10RA	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL10RB	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL2RA	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL2RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections Tags treatable
Green Green List (high evidence)	IPO8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Green Green List (high evidence)	ITCH	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ITK	2 reviews 2 green	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)	JAK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Eosinophilia Eosinophilic enteritis Thyroid disease Poor growth Viral infections Viral infections Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Green Green List (high evidence)	LACC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes juvenile arthritis due to defect in LACC1 MONDO:0032920 Tags
Green Green List (high evidence)	LIG4	4 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 Immune dysregulation Tags
Green Green List (high evidence)	LRBA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700 Recurrent infections Inflammatory bowel disease Autoimmunity EBV infections Tags
Green Green List (high evidence)	LYN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Tags
Green Green List (high evidence)	LYST	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	MAGT1	1 review 1 green	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)	NBAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 Tags
Green Green List (high evidence)	NBEAL2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Gray platelet syndrome, MIM# 139090 Immune dysregulation Tags
Green Green List (high evidence)	NCKAP1L	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency Immune dysregulation Immunodeficiency 72 with autoinflammation, MIM# 618982 Tags
Green Green List (high evidence)	PEPD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Prolidase deficiency, MIM#170100 Tags
Green Green List (high evidence)	POMP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Combined immunodeficiency Autoinflammation Tags
Green Green List (high evidence)	PRF1	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PRKCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type III, MIM# 615559 CVID 9 Tags
Green Green List (high evidence)	RAB27A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Griscelli syndrome, type 2, MIM# 607624 Tags
Green Green List (high evidence)	RASGRP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 64, MIM#618534 Tags
Green Green List (high evidence)	RHBDF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pneumonia Colitis Immunodeficiency Tags
Green Green List (high evidence)	RIPK1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 57, MIM#618108 Tags
Green Green List (high evidence)	RNASEH2A	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RNASEH2B	1 review 1 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	RNASEH2C	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SAMHD1	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SASH3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 102, MIM# 301082 Tags
Green Green List (high evidence)	SH2B3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Predisposition to haematological malignancies Myeloproliferation and multi-organ autoimmunity juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Tags
Green Green List (high evidence)	SH2D1A	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lysinuric protein intolerance, MIM# 222700 Hyper-inflammatory response of macrophages Normal NK cell function Lysinuric protein intolerance Bleeding tendency Alverolar proteinosis Tags
Green Green List (high evidence)	SOCS1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Early-onset autoimmunity Tags
Green Green List (high evidence)	STAT3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Lymphoproliferation solid organ autoimmunity recurrent infections short stature eczema delayed puberty dental abnormalities autoimmune interstitial lung disease juvenile-onset arthritis primary hypothyroidism Tags
Green Green List (high evidence)	STAT6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532 Tags
Green Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552 Tags
Green Green List (high evidence)	STXBP2	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SYK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381 Tags
Green Green List (high evidence)	TET2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immune dysregulation Lymphoma Immunodeficiency-75 (IMD75), MIM#619126 Tags
Green Green List (high evidence)	TLR7	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Systemic lupus erythematosus 17, MIM# 301080 Tags
Green Green List (high evidence)	TMEM173	1 review 1 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TNFRSF9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 109 with lymphoproliferation, MIM# 620282 EBV lymphoproliferation B-cell lymphoma Chronic active EBV infection Tags
Green Green List (high evidence)	TPP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TRAF3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, TRAF3-related, MONDO:0019751 hypergammaglobulinemia lymphadenopathy splenomegaly, Sjögren’s syndrome Tags
Green Green List (high evidence)	TREX1	2 reviews 2 green	Unknown	Sources Expert list Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	UNC13D	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Tags treatable
Green Green List (high evidence)	UNC93B1	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related Tags
Green Green List (high evidence)	XIAP	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 Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags treatable
Green Green List (high evidence)	ZAP70	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Tags
Amber Amber List (moderate evidence)	CASP8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags
Amber Amber List (moderate evidence)	CD274	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 Tags
Amber Amber List (moderate evidence)	DOCK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Genetic hemophagocytic lymphohistiocytosis MONDO:0015541 Tags
Amber Amber List (moderate evidence)	FGL2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, FGL2-related Tags
Amber Amber List (moderate evidence)	GATA3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Immune dysregulation Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Tags
Amber Amber List (moderate evidence)	IL27RA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Tags
Amber Amber List (moderate evidence)	ITGAV	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease, MONDO:0002254, ITGAV-related Tags
Amber Amber List (moderate evidence)	MADD	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes HLH, enteropathy Tags
Amber Amber List (moderate evidence)	NFAT5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immune deficiency disease, MONDO:0003778, NFAT5-related Recurrent infections Autoimmune enterocolopathy EBV susceptibility HLH Tags
Amber Amber List (moderate evidence)	NFATC2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Tags
Amber Amber List (moderate evidence)	P2RY8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Systemic lupus erythematosus, MONDO:0007915, P2RY8-related Tags
Amber Amber List (moderate evidence)	PLCG1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Literature Phenotypes Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Tags
Amber Amber List (moderate evidence)	RHOG	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Genetic HLH, MONDO:0015541, RHOG-related Tags
Amber Amber List (moderate evidence)	TGFB1	1 review	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)	ATG9A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Autophagy-associated immune dysregulation and hyperplasia Tags
Red Red List (low evidence)	CARD10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 89 and autoimmunity, MIM# 619632 Tags
Red Red List (low evidence)	ERN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Immune dysregulation Tags
Red Red List (low evidence)	FAAP24	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related Tags
Red Red List (low evidence)	PACSIN1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes systemic lupus erythematosis vasculitis nephritis Tags
Red Red List (low evidence)	PDCD1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 Tags
Red Red List (low evidence)	TNFSF9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Literature Phenotypes Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Tags

Major version comments

2024-12-16 05:42 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
Fully reviewed panel

Disorders of immune dysregulation (Version 1.5)

24 reviewers

105 Entities

105 reviewed, 84 green

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