Green
Green List (high evidence)
|
|
5 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Dyskeratosis congenita, autosomal dominant 6, OMIM:616553
- Dyskeratosis congenita, autosomal recessive 7, OMIM:616553
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Other
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies
- Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections
- Spondyloenchondrodysplasia with immune dysregulation, 607944
- Type 1 interferonopathies
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital defects of phagocyte number or function
- neutrophil dysfunction
- Mental retardation, short stature
- Actin beta deficiency (ACTB)
- Phagocytic disorder
- Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
- Baraitser-Winter syndrome 1, 243310
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency due to ADA deficiency, 102700
- Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- Adenosine deaminase (ADA) deficiency
- T-B+ SCID
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- T-B- SCID
- Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
- Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- IBD-1
- ADAM17 deficiency
- Inflammatory skin and bowel disease, neonatal, 1
- Inflammatory skin and bowel disease, neonatal 1, 614328
- Autoinflammatory Disorders
- inflammatory skin
- Early onset diarrhea and skin lesions
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Aicardi-Goutieres syndrome 6, OMIM:615010
- Fever Syndromes and Related Diseases
- Type 1 interferonopathies
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency with hyper-IgM, type 2, OMIM:605258
- Hyper IgM syndrome with lymphoid hyperplasia
- Primary Immune Deficiencies
- Bacterial infections, enlarged lymph nodes and germinal centers
- Predominantly Antibody Deficiencies
- Immunodeficiency with hyper-IgM, type 2
- CSR defects and Hyper IgM (HIGM) syndromes
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300
- Multiple endocrine deficiency Addison disease candidiasis syndrome
- Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome
- Diseases of Immune Dysregulation
- Chronic mucocutaneous candidiasis (CMC)
- Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia
- Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Reticular dysgenesis, AK2 deficiency
- Granulocytopenia and deafness
- Reticular dysgenesis, 267500
- Reticular dysgenesis with sensorineural deafness
- Reticular Dysgenesis AK2 (SCID)
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Autoinflammatory Disorders
- ALPI deficiency
- Inflammatory bowel disease
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Pustular psoriasis, 616106
- Pustular psoriasis
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH
- Immunodeficient HPS
- Hermansky-Pudlak syndrome 2
- Diseases of Immune Dysregulation
- Hermansky-Pudlak syndrome with neutropenia
- Hermansky-Pudlak syndrome, 608233
- HPS2
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Literature
Phenotypes
- neutropenia
- Immunodeficient HPS
- seizures
- Diseases of Immune Dysregulation
- Hermansky-Pudlak syndrome with neutropenia
- neuordevelopmental delay
- albinism
- ?Hermansky-Pudlak syndrome 10, 617050
- Hermansky-Pudlak syndrome
- Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay
- Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay
- HSP10
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Trypanosomias
- Trypanosomiasis, susceptibility to
- Defects in Intrinsic and Innate Immunity
- Trypanosomiasis
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Predominantly Antibody Deficiencies
- Recurrent infections, bronchiectasis
- Immunodeficiency 62, 618459
- ARHGEF1 deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718
- Combined immune deficiency with or without thrombocytopenia
- Inflammatory predisposition
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Ataxia-telangiectasia, OMIM:208900
- Combined immunodeficiencies with associated or syndromic features
- Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Immunodeficiency and hepatopathy with or without neurologic features
- Hepatopathy, leukopenia, low copper
- Predominantly Antibody Deficiencies
- Immunodeficiency 47, 300972
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 43,241600
- Immunodeficiency by defective expression of HLA class 1
- Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Diseases of Immune Dysregulation
- BACH2-related immunodeficiency and autoimmunity (BRIDA)
- hypogammaglobulinaemia
- infantile onset enterocolitis
- Lymphocytic colitis, sinopulmonary infections
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency with B cell, T cell, and fibroblast defects
- ?Immunodeficiency 37, 616098
- Recurrent bacterial and viral infections, candidiasis, gastroenteritis
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- leaky SCID
- ?Immunodeficiency 49, 617237
- Immunodeficiencies affecting cellular and humoral immunity
- Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency
- Combined immunodeficiencies with associated or syndromic features
- Bloom syndrome, 210900
- Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinemia
- Agammaglobulinemia 4, 613502
- Severe bacterial infections, normal numbers of pro-B cells
- Agammaglobulinemia 4
- Predominantly Antibody Deficiencies
- agammaglobulinaemia with absent B cells
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group S, OMIM:617883
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
0 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group D1, OMIM:605724
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group J, OMIM:609054
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
7 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinemia, X-linked 1, 300755
- Agammaglobulinemia, X-linked
- Agammaglobulinemia, X-linked 1 (XLA)
- Agammaglobulinemia
- Severe bacterial infections, normal numbers of pro-B cells
- agammaglobulinaemia
- Agammaglobulinemia and isolated hormone deficiency, 307200
- Agammaglobulinemia and isolated hormone deficiency
- Predominantly Antibody Deficiencies
- CVID
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Autosomal recessive CGD EROS
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- SLE, infections with encapsulated organisms
- Complement component 1 deficiency
- C1q deficiency, 613652
- Complement Deficiencies
- Immunodeficiency due to a classical component pathway complement deficiency
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
Inherited complement deficiency v0.11
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- SLE, infections with encapsulated organisms
- SLE
- lupus-like disease
- Complement component 1 deficiency
- Immunodeficiency due to an early component of complement deficiency, 613652
- C1q deficiency
- susceptibility to invasive bacterial infection
- Complement Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- SLE, infections with encapsulated organisms
- Complement component 1 deficiency
- C1q deficiency, 613652
- Complement Deficiencies
- Immunodeficiency due to a classical component pathway complement deficiency
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2020
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- SLE
- pyogenic infections
- Complement component 1 deficiency
- SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
- Complement Deficiencies
- C1r/C1s deficiency, combined, Lupus
- Immunodeficiency due to a classical component pathway complement deficiency
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2021
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- SLE
- pyogenic infections
- Complement component 1 deficiency
- SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
- Complement Deficiencies
- C1s deficiency, 613783
- C1s deficiency, Lupus
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
Inherited complement deficiency v0.11
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Component C2 Deficiency
- Lupus
- Complement Deficiencies
- SLE, infections with encapsulated organisms, atherosclerosis
- C2 deficiency, 217000
- Immunodeficiency due to C1, C4, or C2 component complement deficiency
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2022
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Complement component 3 deficiency
- Atypical hemolytic-uremic syndrome, dense deposit disease
- Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations
- C3 deficiency, 613779
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- C4a deficiency, 614380
- Complement Deficiencies
- SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
- Complement component 4 deficiency
- SLE predisposition
- Immunodeficiency due to a classical component pathway complement deficiency
- infections with encapsulated organisms
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- C4B deficiency, 614379
- SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
- Complement Deficiencies
- SLE predisposition
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- C5 deficiency, 609536
- Disseminated neisserial infections
- Complement Deficiencies
- Complement component 5 deficiency
- Susceptibility to invasive bacterial infection, especially meningococcal
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Disseminated neisserial infections
- C6 deficiency, 612446
- Complement Deficiencies
- Susceptibility to invasive bacterial infection, especially meningococcal
- Complement component 6 deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Disseminated neisserial infections
- Complement component 7 deficiency
- Complement Deficiencies
- C7 deficiency, 610102
- Susceptibility to invasive bacterial infection, especially meningococcal
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Disseminated neisserial infections
- Complement component 8 deficiency
- C8 deficiency, type I, 613790
- Complement Deficiencies
- Susceptibility to invasive bacterial infection, especially meningococcal
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Disseminated neisserial infections
- C8 deficiency, type II, 613789
- Complement component 8 deficiency
- Complement Deficiencies
- Susceptibility to invasive bacterial infection, especially meningococcal
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Complement factor 8 defect
- Complement component 8 deficiency
- Disseminated neisserial infections
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Mild susceptibility to disseminated neisserial infections
- Complement component 9 deficiency
- Complement Deficiencies
- Susceptibility to invasive bacterial infection, especially meningococcal
- C9 deficiency, 613825
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- immunodeficiency 11B with atopic dermatitis (AD), 617638
- CARD11 deficiency
- Combined immunodeficiency
- Autoimmune lymphoproliferative syndrome (ALPS)
- Pneumocystis jirovecii pneumonia, bacterial and viral infections
- Severe atopy, recurrent infections
- B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Splenomegaly, lymphadenopathy, poor vaccine response
- Immunodeficiencies affecting cellular and humoral immunity
- Predominantly Antibody Deficiencies
- Predominantly antibody deficiencies
- Combined immunodeficiencies with associated or syndromic features
- Immunodeficiency 11A, 615206 (AR)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Pityriasis rubra pilaris, OMIM:173200
- Psoriasis 2, OMIM:602723
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Predisposition to invasive fungal disease due to CARD9 deficiency
- 212050
- CARD9 deficiency
- Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections
- Candidiasis, familial, 2
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- warts, molluscum contagiosum, and T cell dysfunction
- Combined immunodeficiency
- Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy
- Diseases of Immune Dysregulation
- EBV+ disseminated smooth muscle tumours
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Adenopathies, splenomegaly, autoimmunity
- Autoimmune lymphoproliferative syndrome, type II, 603909
- Autoimmune lymphoproliferative syndrome (ALPS)
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Caspase-8 deficiency state
- Immunodeficiency due to CASP8 deficiency
- CEDS
- ?Autoimmune lymphoproliferative syndrome, type IIB, 607271
- Diseases of Immune Dysregulation
- Caspase 8 deficiency
- Autoimmune lymphoproliferative syndrome (ALPS)
- Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
- Combined immunodeficiencies with associated or syndromic features
- Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- {HIV-1, resistance to}, 609423
- Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
- Susceptibility to SARS-CoV
- Susceptibility to viral Japanese encephalitis
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
- Susceptibility to SARS-CoV
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
- Susceptibility to SARS-CoV
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 3
- Isolated IgG subclass deficiency
- Recurrent infections, may have glomerulonephritis
- Immunodeficiency, common variable, 3 613493
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
- hypogammaglobulinemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- ?Immunodeficiency 25
- T-B+ severe combined immunodeficiency due to CD3zeta
- Immunodeficiency 25, 610163
- Nl NK, no g/d T cells
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Severe combined immunodeficiency (SCID)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphoproliferative syndrome 2
- Combined immunodeficiency
- Diseases of Immune Dysregulation
- Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma
- Combined immunodeficiency with EBV-associated lymphoproliferation
- CD27 deficiency
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- CD3d deficiency
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Nl NK, no g/d T cells
- Immunodeficiency 19
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
- Severe combined immunodeficiency (SCID)
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency due to defect in CD3-epsilon
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Nl NK, no g/d T cells
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Immunodeficiency 18, SCID variant
- Severe combined immunodeficiency (SCID)
- CD3e deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- Immunodeficiency 17, CD3 gamma deficient 615607
- CD3z deficiency
- Immunodeficiencies affecting cellular and humoral immunity
- N/A
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Immunodeficiency with hyper-IgM, type 3
- Hyper-IgM syndrome due to CD40 deficiency
- non-X-linked hyper IgM syndrome
- Immunodeficiencies affecting cellular and humoral immunity
- HIGM3
- CD40 deficiency
- Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections
- CSR defects and Hyper IgM (HIGM) syndromes
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper-IGM immunodeficiency, X-linked
- HIGM
- Hyper-IGM syndrome
- Hyper-IgM syndrome type 1
- Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections
- XHIM
- Immunodeficiency, X-linked, with hyper-IgM
- Immunodeficiencies affecting cellular and humoral immunity
- Hyper-IgM syndrome due to CD40 ligand deficiency
- Hyper-IgM syndrome due to CD40L deficiency
- IHIS
- HIGM1
- IMD3
- CSR defects and Hyper IgM (HIGM) syndromes
- Immunodeficiency 3
- CD40 ligand deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
- atypical HUS
- Membrane Cofactor Protein (CD46) deficiency
- Complement Deficiencies
- Atypical hemolytic-uremic syndrome, infections, preeclampsia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- primary intestinal lymphangiectasia
- protein-losing enteropathy
- Protein losing enteropathy, thrombosis
- Decay-accelerating factor for complement deficiency (DAF CD55)
- Complement Deficiencies
- hypogammaglobulinaemia
- angiopathic thrombosis
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Primary CD59 deficiency
- paroxysmal nocturnal haemoglobinuria
- CD59 antigen P18-20 deficiency (CD59)
- Hemolytic anemia, polyneuropathy
- Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
- childhood relapsing immune-mediated polyneuropathy
- Complement Deficiencies
- chronic hemolysis
- Membrane Attack Complex Inhibitor (CD59) deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Combined immunodeficiency
- CD70-deficiency
- Diseases of Immune Dysregulation
- EBV-related malignancy
- EBV susceptibility, Hodgkin lymphoma
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
5 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinemia
- Agammaglobulinemia 3, 613501
- Severe bacterial infections, normal numbers of pro-B cells
- Agammaglobulinemia with autosomal recessive inheritance (ARA)
- Predominantly Antibody Deficiencies
- CD79A deficiency
- Agammaglobulinemia 3
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinemia
- Severe bacterial infections, normal numbers of pro-B cells
- Agammaglobulinemia 6, 612692
- CD79B deficiency, Agammaglobulinemia with autosomal recessive inheritance (ARA)
- Agammaglobulinemia 6
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- CD81 deficiency
- Isolated IgG subclass deficiency
- Recurrent infections, may have glomerulonephritis
- Common variable immunodeficiency disorders (CVID)
- hypogammaglobulinaemia
- Predominantly Antibody Deficiencies
- Immunodeficiency, common variable 6, 613496
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent infections, may be asymptomatic
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- CD8 deficiency familial, 608957
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Neonatal-onset cytopaenia with dyshaematopoiesis
- autoinflammation
- rash
- HLH
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- ICF
- recurrent respiratory infections
- ICF3
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
- immunodeficiency, centromeric instability, facial anomalies syndrome type 3
- hypogammaglobulinaemia
- enteropathy
- Combined immunodeficiencies with associated or syndromic features
- Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
- Immunodeficiency-centromeric instability-facial anomalies syndrome
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Specific granule deficiency, OMIM:245480
- CCAAT/enhancer binding protein epsilon deficiency (CEBPE)
- Recurrent infection due to specific granule deficiency
- Neutrophil lactoferrin deficiency
- Neutrophils with bilobed nuclei
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Infections with encapsulated organisms
- Complement Deficiencies
- complement factor B deficiency (AR)
- Atypical Hemolytic-uremic syndrome
- Complement factor B deficiency, 615561
- Susceptibility to atypical haemolytic uraemic syndrome 4 (AD)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
Inherited complement deficiency v0.11
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Complement factor D deficiency, 613912
- Neisserial infections
- Recurrent Neisseria infections due to factor D deficiency
- Complement Deficiencies
- Complement factor D deficiency
- Factor D deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
Inherited complement deficiency v0.11
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Complement factor H deficiency, 609814
- Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Age related macular degeneration
- Atypical hemolytic uremic syndrome susceptibility
- Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Age related macular degeneration
- Atypical hemolytic uremic syndrome susceptibility
- Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Age related macular degeneration
- Atypical hemolytic uremic syndrome susceptibility
- Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Age related macular degeneration
- Atypical hemolytic uremic syndrome susceptibility
- Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Atypical hemolytic-uremic syndrome with anti-factor H antibodies
- Atypical hemolytic uremic syndrome susceptibility
- Nephropathy due to CFHR5 deficiency, 614809
- Complement Deficiencies
- Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
Inherited complement deficiency v0.11
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- {Macular degeneration, age-related, 13, susceptibility to}, 615439
- Complement factor I deficiency
- Factor I deficiency
- {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
- Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia
- Complement Deficiencies
- Immunodeficiency with factor I anomaly
- C3b inactivator deficiency
- Complement factor I deficiency, 610984
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Neisserial infections
- Complement Deficiencies
- Properdin deficiency
- Properdin P factor complement deficiency (PFC)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Congenital defects of phagocyte number or function
- Cystic fibrosis, 219700
- Respiratory infections, pancreatic insufficiency, elevated sweat chloride
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- CHARGE syndrome, 214800
- Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs
- Immunodeficiency
- Combined immunodeficiencies with associated or syndromic features
- COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES
- Charge syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
OMIM
Phenotypes
- Epidermodysplasia verruciformis 3 618267
- Defects in intrinsic and innate immunity
- CIB1 deficiency
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- HLA class II deficiency
- Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
- Immunodeficiencies affecting cellular and humoral immunity
- Respiratory and gastrointestinal infections, liver/biliary tract disease
- Bare lymphocyte syndrome, type II, complementation group A
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Defects in Intrinsic and Innate Immunity
- Osteopetrosis with hypocalcemia, neurologic features
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR
- Congenital defects of phagocyte number or function
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
- 3-methylglutaconic aciduria, type VII
- 3-methylglutaconic aciduria, type 7
- Recurrent or severe infection
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune interstitial lung disease-arthritis syndrome
- Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production
- Autoinflammatory Disorders
- Autoimmune inflammatoy arthritis and interstial lung disease, 616414
- COPA syndrome
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- Immunodeficiency 8
- hypogammaglobulinaemia, combined immunodeficiency
- Coronin-1A deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Detectable thymus, EBV
- Immunodeficiencies affecting cellular and humoral immunity
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent infections
- Lupus
- Isolated IgG subclass deficiency
- Immunodeficiency, common variable, 7
- Common variable immunodeficiency disorders (CVID)
- hypogammaglobulinaemia
- Predominantly Antibody Deficiencies
- Immunodeficiency, common variable, 7, 614699
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital pulmonary alveolar proteinosis
- Alveolar proteinosis
- Congenital defects of phagocyte number or function
- Pulmonary alveolar proteinosis
- hypersensitivity
- Surfactant metabolism dysfunction, pulmonary 4, 300770
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Surfactant metabolism dysfunction, pulmonary, 5, 614370
- Congenital defects of phagocyte number or function
- Alveolar proteinosis
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital neutropenia
- Congenital defects of phagocyte number or function
- Neutropenia, severe congenital 7
- N/A
- Neutropenia, severe congenital, 7, autosomal recessive, 617014
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Bone marrow failure
- Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres
- Cerebroretinal microangiopathy with calcifications and cysts, 612199
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type V
- interstitual lung disease
- autoimmunity
- lymphadenopathy
- T cell lymphopenia
- Combined immunodeficiency
- Immune dysregulation
- a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation
- Diseases of Immune Dysregulation
- Early-onset multi-organ autoimmune disease
- Autoimmune lymphoproliferative syndrome, type V 616100
- hypogammaglobulinaemia
- enteropathy
- Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections
- CVID
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma
- Severe combined immunodeficiency due to CTPS1 deficiency
- Immunodeficiency 24, 615897
- Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH )
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Severe periodontitis
- Periodontitis, palmoplantar hyperkeratosis in some patients
- Congenital defects of phagocyte number or function
- Haim-Munk syndrome, 245010
- palmoplantar keratoderma
- Papillon-Lefevre syndrome, 245000
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Myelokathexis, isolated
- Warts hypogammaglobulinemia infections and myelokathexis (WHIM)
- WHIM syndrome, 193670
- WHIM syndrome
- Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease (CGD)
- Congenital defects of phagocyte number or function
- Infections, autoinflammatory phenotype
- Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease, X-linked, 306400
- Defects with susceptibility to mycobacterial infection (MSMD)
- Congenital defects of phagocyte number or function
- Immunodeficiency 34, mycobacteriosis, X-linked, 300645
- Chronic granulomatous disease (CGD)
- Isolated susceptibility to mycobacteria
- Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- DBR1 deficiency
- Defects in intrinsic and innate immunity
- HSE of the brainstem. Other viral infections of the brainstem
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 8, OMIM:620133
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, Athabascan type, 602450
- Severe combined immunodeficiency, Athabascan type
- DCLRE1C (Artemis) deficiency
- Combined immunodeficiency
- Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- Nl NK, radiation sensitive
- T-B+ SCID
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- T-B- SCID
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- DEF6 deficiency
- Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, X-linked 305000
- Severe phenotype with DD and cerebellar hypoplasia
- Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- Combined immunodeficiencies with associated or syndromic features
- Hoyeraal-Hreidarsson syndrome
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, recurrent infections
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Bone marrow failure syndrome 3, 617052
- Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure
- Shwachman-Diamond syndrome-like
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Systemic lupus erythematosus 16, 614420
- Autoinflammatory Disorders
- Diseases of Immune Dysregulation
- familial early-onset SLE
- Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Autoinflammatory-pancytopenia syndrome, OMIM:619858
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
- Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Dock 2 deficiency, Immunodeficiency 40
- Immunodeficiencies affecting cellular and humoral immunity
- Immunodeficiency 40, 616433
- Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper-IgE recurrent infection syndrome, autosomal recessive 243700
- Combined immunodeficiency
- Hyper-IgE recurrent infection syndrome, autosomal recessive
- Hyper IgE syndrome (HIES)
- Immunodeficiencies affecting cellular and humoral immunity
- Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis
- Hyper-IgE recurrent infection syndrome
- impaired T cell function, Atopy, cutaneous viral infections
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Congenital neutropenias
- Congenital defects of phagocyte number or function
- Shwachman-Diamond Syndrome, 617941
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital neutropenia
- Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
- Neutropenia, cyclic, 162800
- Cyclic neutropenia
- Congenital defects of phagocyte number or function
- Neutropenia, severe congenital 1
- Neutropenia, severe congenital 1, autosomal dominant, 202700
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Vici syndrome
- Vici syndrome due to EPG5 deficiency
- Vici syndrome, 242840
- Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis
- Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
- syndromic phenotype (immunodeficiency variable)
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- ERBIN deficiency
- Combined immunodeficiencies with associated or syndromic features
- Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group Q, 615272
- Bone marrow failure
- Fanconi Anemia Type Q
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Bone marrow failure syndrome 2, 615715
- Combined immunodeficiencies with associated or syndromic features
- Facial dysmorphism, microcephaly, bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- EXTL3 deficiency
- Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay
- Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
GRID V2.0
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Angioedema, hereditary, 3, OMIM:610618
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- EBV infection-driven lymphoproliferative disease
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- para-infectious encephalopathy and hepatopathy
- Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction
- Diseases of Immune Dysregulation
- invasive pneumococcal disease
- cardiovascular malformations
- Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759
- functional hyposplenism
- ALPS-like disease
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group A, 227650
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 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
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group B, 300514
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group C, 227645
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group D2, 227646
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group E, 600901
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi anemia, complementation group F, 603467
- Fanconi Anemia Type F
- Bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group G, 614082
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group I, 609053
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi Anemia Type I
- Bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group L, 614083
Tags
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Bone marrow failure
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi Anemia Type M
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12
- Diseases of Immune Dysregulation
- Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS)
- Autoimmune lymphoproliferative syndrome type IA, 601859
- Autoimmune lymphoproliferative syndrome (ALPS)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IB, 601859
- Diseases of Immune Dysregulation
- Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG)
- Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated
- Autoimmune lymphoproliferative syndrome (ALPS)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
- Combined immunodeficiencies with associated or syndromic features
- Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
Literature
Phenotypes
- Fc receptor deficiencies
- Severity of severe acute respiratory syndrome (SARS)-Cov infection
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV)
- CD16 deficiency
- predisposition to severe viral infection
- Immunodeficiency 20, 615707
- Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
- Defects in Intrinsic and Innate Immunity
- Fc receptor deficiencies
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis
- FCHO1 deficiency
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Respiratory infections, abscesses
- Complement Deficiencies
- Ficolin3 deficiency
- Immunodeficiency due to ficolin 3 deficiency, 613860
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- FERMT1 deficiency (Kindler syndrome)
- Kindler syndrome, 173650
- Diseases of Immune Dysregulation
- Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- LAD type 1 plus bleeding tendency
- LAD
- Congenital defects of phagocyte number or function
- Leukocyte adhesion deficiency, type III, 612840
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
4 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2024
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR)
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD)
- T-B+ SCID
- Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- FOXP3 deficiency (IPEX)
- Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome
- Diseases of Immune Dysregulation
- Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
- IPEX
- Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Periodontitis only
- Congenital defects of phagocyte number or function
- Periodontitis
- Localized juvenile peridontitis
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
Phenotypes
- Localized juvenile peridontitis
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs
- Congenital neutropenia
- Dursun syndrome, 612541
- Severe Congenital Neutropenia
- Neutropenia, severe congenital 4, autosomal recessive, 612541
- Congenital defects of phagocyte number or function
- Neutropenia, severe congenital 4
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Infections
- haemolytic anaemia
- Congenital defects of phagocyte number or function
- Susceptibility to viral infection
- chronic granulomatous disease-like susceptibility to infection
- Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Congenital neutropaenia v1.22
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- neutropenia
- dyserythropoietic anaemia
- thrombocytopenia
- Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema
- Congenital neutropenia
- Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
- Immunodeficiency 21,614172
- Congenital defects of phagocyte number or function
- Monocytopenia and mycobacterial infection (MonoMAC)
- Monocytopenia with susceptibility to infections
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropenia, severe congenital 2
- Congenital neutropenia
- Severe congenital 2, autosomal dominant, 613107
- Congenital defects of phagocyte number or function
- Neutropenia, nonimmune chronic idiopathic, of adults, 607847
- Severe congenital neutropenia
- B/T lymphopenia
- Chronic non-immune neutropenia of adults
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Immunodeficiency 55, 617827
- NK cell deficiency
- chronic neutropenia
- Neutropenia, IUGR, NK cells very low
- GINS1 deficiency
- Combined immunodeficiencies with associated or syndromic features
- intrauterine growth retardation
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Tim-3 deficiency
- T-cell lymphoma, subcutaneous panniculitis-like, HLH
- T-cell lymphoma, subcutaneous panniculitis-like, 618398
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Agranulocytosis v1.3
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital neutropenia
- Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia
- Neutropenia, severe congenital 3, autosomal recessive, 610738
- Congenital defects of phagocyte number or function
- Severe congenital neutropenia
- Neutropenia, severe congenital 3
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- ICF
- Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911
- ICF4
- Combined immunodeficiencies with associated or syndromic features
- Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
- Immunodeficiency-centromeric instability-facial anomalies syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
- Susceptibility to SARS-CoV
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
Unknown
|
Sources
-
Expert Review Green
-
Literature
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
Phenotypes
- amyloidosis
- Hemolysis, nephritis, inflammation
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GOSH PID v.8.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- inflammatory bowel disease
- oculocutaneous albinism
- Hermansky-Pudlak syndrome 1
- bleeding
- pulmonary fibrosis
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GOSH PID v.8.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Hermansky-Pudlak syndrome 4, 614073
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GOSH PID v.8.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Hermansky-Pudlak syndrome 6, 614075
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Congenital neutropaenia v1.22
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- 3-methylglutaconic aciduria, type VIII, 617248
- early onset neurological syndrome
- neutropenia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Hypoglycemia, inflammatory complications
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- combined immunodeficiency
- Isolated IgG subclass deficiency
- gammaglobulinaemia
- Immunodeficiency, common variable, 1, 607594
- Immunodeficiencies affecting cellular and humoral immunity
- Common variable immunodeficiency disorders (CVID)
- hypogammaglobulinaemia
- Immunodeficiency, common variable, 1
- Recurrent infections, autoimmunity, gastroenteritis, granulomas
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiencies affecting cellular and humoral immunity
- Recurrent bacterial and viral infections
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Aicardi-Goutieres syndrome 7, OMIM:615846 (AD)
- Singleton-Merten syndrome 1, OMIM:182250 (AD)
- Susceptibility to RNA viruses (AR)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- {Influenza, severe, susceptibility to}, 614680
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- IFNAR1 associated adverse reactions to certain live attenuated viral vaccines
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- ?Immunodeficiency 45, 616669
- Severe viral infections (disseminated vaccine-strain measles, HHV6)
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
Phenotypes
- {AIDS, rapid progression to} 609423
- {Hepatitis C virus, response to therapy of} 609532
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 27A, (AR) 209950
- Susceptibility to mycobacteria and Salmonella
- Mycobacteriosis
- Defects with susceptibility to mycobacterial infection (MSMD)
- Defects in Intrinsic and Innate Immunity
- Immunodeficiency 27B, (AD) 615978
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Susceptibility to mycobacteria and Salmonella
- Defects with susceptibility to mycobacterial infection (MSMD)
- Immunodeficiency 28, Mycobacteriosis, 614889
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Agammaglobulinemia 1
- Agammaglobulinemia
- Severe bacterial infections, normal numbers of pro-B cells
- Predominantly Antibody Deficiencies
- Agammaglobulinemia 1, 601495
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Immunoglobulin chain deficiencies
- Kappa light chain deficiency, 614102
- Asymptomatic
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinemia
- Severe bacterial infections, normal numbers of pro-B cells
- Agammaglobulinemia 2, 613500
- Agammaglobulinemia 2
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 15A, OMIM:618204 (AD)
- Immunodeficiency 15B, OMIM:615592 (AR)
- Combined immunodeficiency
- Recurrent bacterial, viral, fungal infections, opportunistic infections
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
- Immunodeficiency 33, 300636
- Invasive pneumococcal disease, recurrent isolated, 2,300640
- Defects of TLR/NFkappa-B signalling
- Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction
- Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291
- Combined immunodeficiencies with associated or syndromic features
- Immunodeficiency, isolated, 300584
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 13, 616873
- IKAROS deficiency
- Immunodeficiency, common variable 13
- Predominantly Antibody Deficiencies
- Recurrent sinopulmonary infections
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Early-onset inflammatory bowel disease
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- Diseases of Immune Dysregulation
- Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Inflammatory bowel disease 25, early onset, autosomal recessive,612567
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- Diseases of Immune Dysregulation
- IBD, folliculitis, recurrent respiratory diseases, arthritis, lymphoma
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Susceptibility to mycobacteria and Salmonella
- Immunodeficiency 29, mycobacteriosis, 614890
- Defects with susceptibility to mycobacterial infection (MSMD)
- Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Susceptibility to mycobacteria and Salmonella
- Immunodeficiency 30, 614891
- Defects with susceptibility to mycobacterial infection (MSMD)
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Defects in intrinsic and innate immunity
- Mendelian susceptibility to mycobacterial disease
- IL-12Rb2 deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
Phenotypes
- Arthritis
- Immunodeficiency 5
- Susceptibility to influenza
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- CMC, folliculitis
- Candidiasis, familial, 6, 613956
- Defects in Intrinsic and Innate Immunity
- Chronic mucocutaneous candidiasis (CMC)
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 5
- Chronic mucocutaneous candidiasis (CMC)
- Immunodeficiency 51, 613953
- CMC, folliculitis
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 9 616445
- Chronic Mucocutaneous Candidiasis
- CMC
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
Literature
Phenotypes
- {?Hepatitis, fulminant viral, susceptibility to} 618549
- Defects in intrinsic and innate immunity
- IL-18BP deficiency
- inborn errors of immunity related to leukocytes
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Interleukin 1 receptor antagonist deficiency, OMIM:612852
- Sterile multifocal osteomyelitis, periostitis, and pustulosis
- DIRA
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 11, 615767
- Severe early onset colitis, recurrent sinopulmonary infections
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 56, OMIM:615207
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Combined immunodeficiency
- Omenn syndrome
- Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Defects in intrinsic and innate immunity
- Mendelian susceptibility to mycobacterial disease
- IL-23R deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367
- Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype)
- Diseases of Immune Dysregulation
- Interleukin-2 receptor, alpha chain, deficiency of
- Omenn syndrome
- Lymphoproliferation, autoimmunity, impaired T cell proliferation
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections
- Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495
- CD122 deficiency
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, X-linked
- Combined immunodeficiency, X-linked, moderate
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- SCID
- Severe combined immunodeficiency, X-linked, 300400
- T-B+ SCID
- SCID (x-linked)
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- Low NK
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Psoriasis 14, pustular, OMIM:614204
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- {Kaposi sarcoma, susceptibility to} 148000
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
Literature
Phenotypes
- Eczema
- Recurrent infections
- Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels
- Hyper-IgE
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
Literature
Phenotypes
- Eczema
- Abnormal acute-phase responses
- Recurrent infections
- Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis
- Eosinophilia
- Elevated IgE
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive
- Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
- Nl NK
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- IL7Ra deficiency
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- severe bacterial infections
- Severe bacterial infections
- Predominantly Antibody Deficiencies
- INO80 deficiency, HIGM
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Defects with susceptibility to mycobacterial infection (MSMD)
- Defects of TLR/NFkappa-B signalling
- Invasive pneumococcal disease, recurrent isolated, 1, 6107
- IRAK4 deficiency, 610799
- Defects in Intrinsic and Innate Immunity
- Bacterial infections (pyogens)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Recurrent infections, possible autoimmunity and inflammatory disease
- Predominantly Antibody Deficiencies
- CVID
- Immunodeficiency, common variable, 14, MIM# 617765
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert list
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM616532
- Herpes simplex virus 1 encephalitis
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Defects in intrinsic and innate immunity
- IRF4 haploinsufficiency
- inborn errors of immunity related to leukocytes
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Literature
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe influenza
- ?Immunodeficiency 39, 616345
- Severe influenza disease
- IRF7 deficiency
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
- Susceptibility to mycobacteria and multiple other infectious agents
- Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
- Defects with susceptibility to mycobacterial infection (MSMD)
- Susceptibility to mycobacteria
- familial NK cell deficiency
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
Phenotypes
- Immunodeficiency 65, susceptibility to viral infections, 618648
Tags
|
Green
Green List (high evidence)
|
ISCA-37433-Loss
Region
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ClinGen
-
Expert Review Green
Phenotypes
- diaphragmatic hernia
- facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay
- 192430
- 188400
- 22q11.2 deletion syndrome
- renal anomalies
- cleft palate, polydactyly
- congenital heart disease
- Learning difficulties
- Velocardiofacial syndrome
- polyhydramnios
- DiGeorge syndrome
- immune deficiency
Tags
|
Green
Green List (high evidence)
|
ISCA-37446-Loss
Region
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ClinGen
-
Expert Review Green
Phenotypes
- 188400
- clefting
- Velocardiofacial syndrome
- neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
- cardiac malformations
- Hearing deficits
- DiGeorge syndrome
- micrognathia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 38, 616126
- idiopathic basal ganglia calcification
- Defects with susceptibility to mycobacterial infection (MSMD)
- Susceptibility to mycobacteria, brain calcifications
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features
- Diseases of Immune Dysregulation
- Autoimmune disease, multisystem, with facial dysmorphism, 613385
- Syndromic multisystem autoimmune disease due to Itch deficiency
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Delayed cord separation, skin ulcers, periodontitis, leukocytosis
- Leukocyte adhesion deficiency type I
- Congenital defects of phagocyte number or function
- LAD
- Leukocyte adhesion deficiency, 116920
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG
- Combined immunodeficiency
- Diseases of Immune Dysregulation
- ITK deficiency (HLH phenotype)
- EBV viraemia, HLH
- Lymphoproliferative syndrome 1
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Green
-
Literature
-
Research
Phenotypes
- Kawasaki disease, susceptibility to, 611775
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital neutropenia
- Myeloid maturation arrest, osteopenia
- Congenital defects of phagocyte number or function
- Neutropenia, severe congenital
- Neutropenia, severe congenital, 6, autosomal recessive,616022
- severe congenital neutropenia
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification December 2025
-
IUIS Classification February 2018
Phenotypes
- Hypereosinophilic syndrome
- HSM, eosinophilic enteritis, thyroid disease, poor growth, viral infections
- Diseases of Immune Dysregulation
- Susceptibility to mycobacteria and viruses, urothelial carcinoma
- Defects in Intrinsic and Innate Immunity
- HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- SCID, autosomal recessive, T-negative/B-positive type
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- JAK3 deficiency
- T-B+ SCID
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- Low NK
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
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
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Kabuki Syndrome 2 due to KDM6A deficiency
- Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Wiedemann-Steiner syndrome with Congenital immunodeficiency
- Unclassified antibody deficiency
- Combined immunodeficiencies with associated or syndromic features
- Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Kabuki syndrome 1, 147920
- Combined immunodeficiencies with associated or syndromic features
- Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure
- Congenital neutropenia
- Congenital defects of phagocyte number or function
- Primary immunodeficiency syndrome due to p14 deficiency
- Immunodeficiency due to defect in MAPBP-interacting protein, 610798
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
Combined B and T cell defect v1.12
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
Phenotypes
- Immunodeficiencies affecting cellular and humoral immunity
- Immunodeficiency 52, 617514
- Adenopathy, splenomegaly, recurrent infections, autoimmunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency due to LCK deficiency
- Recurrent infections, immune dysregulation, autoimmunity
- Combined immunodeficiency
- Immunodeficiency 22, 615758
- Immunodeficiencies affecting cellular and humoral immunity
- LCK deficiency
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Emory Genetics Laboratory
-
Expert Review
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Literature
-
Other
Phenotypes
- DNA ligase I deficiency
- Combined immunodeficiencies with associated or syndromic features
- DNA-ligase 1 ATP-dependent deficiency (LIG1)
- Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- LIG4 syndrome
- DNA ligase IV deficiency
- Nl NK, radiation sensitive, microcephaly
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
- Severe combined immunodeficiency (SCID)
- T-B- SCID
- LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
- Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Majeed syndrome, OMIM:609628
- Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Unclassified antibody deficiency
- Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections
- Diseases of Immune Dysregulation
- Immunodeficiency, common variable, 8, with autoimmunity, 614700
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Chediak-Higashi syndrome 214500
- Chediak Higashi syndrome
- Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- ?Fanconi anemia, complementation group V, 617243
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
- Combined immunodeficiency
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
- Immunodeficiency, X-linked, with magnesium defect
- Diseases of Immune Dysregulation
- Epstein-Barr virus infection and neoplasia (XMEN)
- EBV infection, lymphoma, viral infections, respiratory and GI infections
- XMEN syndrome
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Bacterial, fungal and viral infections
- Immunodeficiency 12 615468
- Immunodeficiencies affecting cellular and humoral immunity
- Combined immunodeficiency
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections
- Recessive Atypical Combined Immunodeficiency
- Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity
- Immunodeficiencies affecting cellular and humoral immunity
- Immunodeficiency 112, OMIM:620449
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- MASP2 deficiency 613791
- Mannan-binding lectin serine protease (MASP) deficiency
- Complement Deficiencies
- Not associated with SARS-CoV susceptibility
- Pyogenic infections, inflammatory lung disease, autoimmunity
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Predisposition to several viral infection
- Immunodeficiency 54, 609981
- MCM4 deficiency
- NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure
- Natural killer cell and glucocorticoid deficiency with DNA repair defect
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Familial Mediterranean fever, AD, OMIM:134610
- Familial Mediterranean fever, AR, OMIM:249100
- Neutrophilic dermatosis, acute febrile, OMIM:608068
- Recurrent fever, serositis and inflammation responsive to colchicine
- Predisposes to vasculitis and inflammatory bowel disease
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Susceptibility to severe bacterial infection
- Mild thrombocytopenia
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb)
- Congenital disorder of glycosylation, type IIb 606056
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
Phenotypes
- Myeloperoxidase deficiency 254600
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent infections
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
- Immunodeficiency, common variable, 5 613495
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Colorectal cancer, hereditary nonpolyposis, type 5 614350
- Endometrial cancer, familial 608089
- Family or personal history of cancer
- Predominantly Antibody Deficiencies
- Mismatch repair cancer syndrome 276300
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert list
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Combined immunodeficiency
- Immunodeficiency 50, MIM300988
- Immunodeficiency 50, 300988
- Immunodeficiencies affecting cellular and humoral immunity
- Recurrent infections with bacteria, varicella, neutropenia
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
- Combined immunodeficiencies with associated or syndromic features
- Defects of Vitamin B12 and Folate metabolism
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper-IgD syndrome, OMIM:260920
- Mevalonic aciduria, OMIM:610377
- Autoinflammatory Disorders
- Periodic fever and leukocytosis with high IgD levels
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- recurrent pyogenic bacterial infection
- Defects of TLR/NFkappa-B signalling
- Defects in Intrinsic and Innate Immunity
- Bacterial infections (pyogens)
- Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GOSH PID v.8.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Diarrhea 2, with microvillus atrophy, OMIM:251850
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Bone marrow failure
- immunodeficiency
- Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.
- mid-face hypoplasia
- MYSM1 deficiency
- neurodevelopmental delay
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Infantile liver failure syndrome 2, 616483
- Defects in intrinsic and innate immunity
- Fever induced liver failure
- Defects in Intrinsic and Innate Immunity
- Fever induces liver failure
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Nijmegen breakage syndrome (NBS1)
- Nijmegen breakage syndrome 251260
- Aplastic anemia 609135
- Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease due to deficiency of NCF-1 233700
- Chronic granulomatous disease (CGD)
- Congenital defects of phagocyte number or function
- Infections, autoinflammatory phenotype
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease due to deficiency of NCF-2 233710
- Chronic granulomatous disease (CGD)
- Congenital defects of phagocyte number or function
- Infections, autoinflammatory phenotype
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Infections, autoinflammatory phenotype
- Congenital defects of phagocyte number or function
- ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
- Chronic granulomatous disease (CGD)
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Hidradenitis suppurativa with acne, 142690
- Defects in intrinsic and innate immunity
- familial hydradenitis suppurativa
- Defects in Intrinsic and Innate Immunity
- Hidradenitis suppurativa with acne
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- NFAT5 haploinsufficieny
- IBD, recurrent sinopulmonary infections
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Recurrent respiratory and skin infections, growth retardation, , developmental delay
- NFE2L2 GOF
- increased expression of stress response genes
- Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744
- Combined immunodeficiencies with associated or syndromic features
- white matter cerebral lesions, increased level of homocysteine
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Unclassified antibody deficiency
- Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
- Immunodeficiency, common variable, 12 616576
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
5 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent sinopulmonary infections, alopecia and endorinopathies
- Immunodeficiency, common variable, 10 615577
- Unclassified antibody deficiency
- Hypogammaglobuliaemia
- central adrenal insufficiency
- immune dysregulation
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction
- Defects of TLR/NFkappa-B signalling
- Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
7 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291
- Nl NK, radiation sensitive, microcephaly
- Immunodeficiencies affecting cellular and humoral immunity
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
- T-B+ SCID
- Cernunnos/XLF deficiency
- T-B- SCID
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita
- Hoyeraal-Hreidarsson syndrome
- Dyskeratosis congenita, autosomal recessive 2 613987
- Combined immunodeficiencies with associated or syndromic features
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammation with infantile enterocolitis, OMIM:616050
- ?Familial cold autoinflammatory syndrome 4, OMIM:616115
- Severe enterocolitis and macrophage activation syndrome
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Dyskeratosis, autoimmunity and arthritis
- Palmoplantar carcinoma, corneal scarring
- Autoinflammation with arthritis and dyskeratosis
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Familial cold autoinflammatory syndrome 2, OMIM:611762
- Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure
- Preterm premature rupture of membranes (PPROM)
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- CINCA syndrome, OMIM:607115
- Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772
- Familial cold inflammatory syndrome 1, OMIM:120100
- Muckle-Wells syndrome, OMIM:191900
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Blau syndrome, OMIM:186580
- {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600
- {Yao syndrome}, OMIM:617321
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita
- Dyskeratosis congenita 1
- Dyskeratosis congenita, autosomal recessive 1 224230
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- Combined immunodeficiencies with associated or syndromic features
- Hoyeraal-Hreidarsson syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241
- Combined immunodeficiencies with associated or syndromic features
- Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
4 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- immunodeficiency, ectodermal dysplasia and myopathy
- Immunodeficiency 9 612782
- Autoimmunity, EDA, non-progressive myopathy
- T-B+ SCID
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
- Osteopetrosis with hypocalcemia, neurologic features
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
- Fever, diarrhoea, dermatitis
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group N, 610832
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371
- Dyskeratosis congenita, autosomal recessive 6 616353
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Other
Phenotypes
- Otofaciocervical syndrome 2, 615560
- Syndromic SCID
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Prolidase deficiency, 170100
- Autoantibodies common, chronic skin ulcers, eczema, infections
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 23 615816
- Combined immunodeficiencies with associated or syndromic features
- Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination
- Combined immunodeficiency
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
7 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2026
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 14A, autosomal dominant, OMIM:615513
- Immunodeficiency 14B, autosomal recessive, OMIM:619281
- Combined immunodeficiency
- Activated PI3K-delta syndrome (APDS)
- Predominantly Antibody Deficiencies
- Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia
- Severe bacterial infections
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
Phenotypes
- Immune dysregulation
- HLH-like
- childhood-onset antibody defects
- cytopenias
- T lymphocytic pneumonitis and colitis
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
7 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinemia
- Severe bacterial infections, decreased or absent pro-B cells
- Combined immunodeficiency
- Immunodeficiency 36
- Activated PI3K-delta syndrome (APDS)
- immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
- Agammaglobulinemia 7, autosomal recessive, 615214
- Agammaglobulinemia 7
- Immunodeficiency 36, 616005
- Predominantly Antibody Deficiencies
- SHORT syndrome, 269880
- Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
5 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878
- Familial cold autoinflammatory syndrome 3, OMIM:614468
- Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Osteopetrosis
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
- Post-Meiotic Segregation 2 (PMS2) deficiency
- Mismatch repair cancer syndrome 276300
- Combined immunodeficiencies with associated or syndromic features
- CSR defects and Hyper IgM (HIGM) syndromes
- Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- Autoimmune haemolytic anemia, neurological impairment
- Immunodeficiency due to purine nucleoside phosphorylase deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- T-B+ SCID
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Hyperpigmentation, characteristic facies, lung and GI involvement
- Autoinflammatory Disorders
- Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220
- X-linked reticulate pigmentary disorder
- x-linked cutaneous amyloidosis with systemic features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Immunodeficiencies affecting cellular and humoral immunity
- Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
- Polymerase d 1 deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Immunodeficiencies affecting cellular and humoral immunity
- Polymerase d 2 deficiency
- Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature
- Combined immunodeficiencies with associated or syndromic features
- FILS syndrome 615139
- Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism)
- Combined immunodeficiencies with associated or syndromic features
- Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
IUIS Classification December 2019
-
Victorian Clinical Genetics Services
Phenotypes
- RNA polymerase III deficiency
- Severe VZV infection
- Predisposition to severe viral infection
- Defects in intrinsic and innate immunity
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
IUIS Classification December 2019
-
Victorian Clinical Genetics Services
Phenotypes
- RNA polymerase III deficiency
- Severe VZV infection
- Predisposition to severe viral infection
- Defects in intrinsic and innate immunity
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
IUIS Classification December 2019
-
Victorian Clinical Genetics Services
Phenotypes
- RNA polymerase III deficiency
- Severe VZV infection
- Predisposition to severe viral infection
- Defects in intrinsic and innate immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Proteasome-associated autoinflammatory syndrome 2, 618048
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
- combined immunodeficiency with autoinflammation
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias
- FHL2
- HPLH2
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- Diseases of Immune Dysregulation
- Hemophagocytic lymphohistiocytosis, familial 2, 603553
- HLH2
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG
- Autoimmune lymphoproliferative syndrome, type III 615559
- Diseases of Immune Dysregulation
- Unclassified antibody deficiency
- Immunodeficiency, common variable, 9
- Autoimmune lymphoproliferative syndrome (ALPS)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 26, with or without neurologic abnormalities
- DNA Pkcs deficiency
- Combined immunodeficiency
- Immunodeficiency, with or without neurologic abnormalities
- Nl NK, radiation sensitive, microcephaly
- Immunodeficiencies affecting cellular and humoral immunity
- Severe combined immunodeficiency (SCID)
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
Phenotypes
- Hidradenitis suppurative with cutaneous hyperpigmentation
- Acne inversa, familial, 3 613737
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Acne inversa, familial, 2, with or without Dowling-Degos disease 613736
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
- Hidradenitis suppurativa
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2027
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040
- Autoinflammation, lipodystrophy, and dermatosis syndrome
- Contractures, panniculitis, ICC, fevers
- Autoinflammatory Disorders
- CANDLE syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Autoinflammatory Disorders
- Panniculitis, lipodystrophy, autoimmune hemolytic anemia
- CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416
- Destructive arthritis, inflammatory skin rash, myositis
- Hyperzincaemia hypercalprotectinaemia
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Recurrent infections, Lymphoproliferation, Autoimmunity
- Lymphoproliferation, Autoimmunity
- developmental delay
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Nl g/d T cells
- {Hepatitic C virus, susceptibility to}, 609532
- CD45 deficiency
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Omenn syndrome
- Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
- Severe combined immunodeficiency (SCID)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Diseases of Immune Dysregulation
- Partial albinism, fever, HSM, HLH, cytopenias
- Griscelli syndrome, type 2 607624
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Reticular dysgenesis
- poststreptococcal glomerulonephritis
- Congenital defects of phagocyte number or function
- Neutrophil immunodeficiency syndrome
- RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2)
- T-B+ SCID
- Neutrophil immunodeficiency syndrome 608203
- Recurrent sinopulmonary infections, selective IgA defiency
- urticaria
- T-B- SCID
- Poor wound healing, leukocytosis
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- ?Fanconi anemia, complementation group R, 617244
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group O, 613390
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Nl NK
- Severe combined immunodeficiency, B cell-negative, 601457
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Severe combined immunodeficiency, B cell-negative
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- T-B- SCID
- RAG1 deficiency
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
6 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Nl NK
- Severe combined immunodeficiency, B cell-negative, 601457
- Severe Combined Immune Deficiency
- Atypical Severe Combined Immunodeficiency (Atypical SCID)
- Immunodeficiencies affecting cellular and humoral immunity
- T-B+ SCID
- Severe combined immunodeficiency, B cell-negative
- Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
- Omenn syndrome
- Severe combined immunodeficiency (SCID)
- T-B- SCID
- RAG2 deficiency
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification December 2028
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Fever induces acute encephalopathy
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma
- Immunodeficiency 64, 618534
- Diseases of Immune Dysregulation
- Immunodeficiency
- EBV-induced lymphoma
- immunde dysregulation
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
- Bacterial infections, autoinflammation, amylopectinosis
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
Phenotypes
- Rothmund-Thomson syndrome, 268400
- Combined immunodeficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections
- Immunodeficiencies affecting cellular and humoral immunity
- c-Rel deficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- RelA haplosufficiency
- Mucosal ulceration, impaired NFkB activation
- Mucocutaneous ulceration, chronic, 618287
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Immunodeficiencies affecting cellular and humoral immunity
- Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity
- Recurrent infections
- ?Immunodeficiency 53, 617585
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- ?Fanconi anemia, complementation group W, 617784
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- HLA class II deficiency
- Combined immunodeficiency
- Bare lymphocyte syndrome (MHC class II deficiency)
- Bare lymphocyte syndrome, type II, complementation group E
- Immunodeficiencies affecting cellular and humoral immunity
- Respiratory and gastrointestinal infections, liver/biliary tract disease
- Bare lymphocyte syndrome, type II, complementation group C
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- MHC class II deficiency, complementation group B, OMIM:209920
- HLA class II deficiency
- Respiratory and gastrointestinal infections, liver/biliary tract disease
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- HLA class II deficiency
- Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
- Bare lymphocyte syndrome, type II, complementation group D
- Immunodeficiencies affecting cellular and humoral immunity
- Respiratory and gastrointestinal infections, liver/biliary tract disease
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- T cell deficiency and various infectious diseases
- Combined immunodeficiency
- HPV infection, lung granulomas, molluscum contagiosum, lymphoma
- Epidermodysplasia verruciformis
- Immunodeficiencies affecting cellular and humoral immunity
- RhoH deficiency
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Severe immunodeficiency, arthritis, and intestinal inflammation
- Immunodeficiency 57, 618108
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
- Cartilage hair hypoplasia
- Cartilage-hair hypoplasia
- Anauxetic dysplasia 1, 232220
- Omenn syndrome
- Cartilage-hair hypoplasia, with or without immunodeficiency
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammatory Disorders
- Classical AGS
- Aicardi-Goutieres syndrome 4 610333, Lupus
- Type 1 interferonopathies
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Aicardi-Goutieres syndrome 2 610181
- Autoinflammatory Disorders
- Type 1 interferonopathies
- Classical AGS, SP
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Aicardi-Goutieres syndrome 3 610329
- Autoinflammatory Disorders
- Type 1 interferonopathies
- Classical AGS
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- RNF168 deficiency
- Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity
- RIDDLE syndrome 611943
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Polyglucosan body myopathy, early-onset, with or without immunodeficiency
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- autoinflammation and combined immunodeficiency
- Combined immunodeficiencies with associated or syndromic features
- Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
- Combined immunodeficiencies with associated or syndromic features
- Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 42 616622
- Susceptibility to mycobacteria and candida
- Defects in Intrinsic and Innate Immunity
- Susceptibility to candidasis & Mycobacterial infection
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Isolated congential asplenia 271400
- Bacteremia (encapsulated bacteria)
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- Dyskeratosis congenita, 5 615190
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen
- MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy)
- ataxia-thrombocytopenia syndrome
- Bone marrow failure
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction
- MDS, neurological features
- Combined immunodeficiencies with associated or syndromic features
- Bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Classical AGS, FCL
- Autoinflammatory Disorders
- Type 1 interferonopathies
- Aicardi-Goutieres syndrome 5 612952
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Shwachman-Bodian-Diamond syndrome
- Shwachman-Diamond-syndrome
- Shwachman-Diamond syndrome, 260400
- Congenital defects of phagocyte number or function
- Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Severe recurrent respiratory tract infections
- SEC61A1 deficiency
- Hyperuricemic nephropathy, familial juvenile, 4, 617056
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- CHARGE syndrome
- immune-mediated cerebellar ataxia
- Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs
- Charge syndrome 214800
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Angioedema, hereditary, types I and II 106100
- Complement component 4, partial deficiency of 120790
- Complement Deficiencies
- Hereditary Angioedema (C1inh)
- Hereditary angioedema
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
Expert Review Green
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- drenal insufficiency
- focal segmental glomerulosclerosis
- steroid-resistant nephrotic syndrome
- Nephrotic syndrome 14, 617575
- lymphopenia
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells
- Lymphoproliferative syndrome, X-linked, 1 308240
- Diseases of Immune Dysregulation
- X-linked lymphoproliferative syndrome (XLP)
- Lymphoproliferative syndrome, X-linked, 1 (XLP1)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Severe bacterial infections
- SH3KBP1 (CIN85) deficiency
- Predominantly Antibody Deficiencies
- Immunodeficiency 61, 300310
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Trichohepatoenteric syndrome 2,614602
- Immune dysfunction
- Trichohepatoenteric syndrome
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
- Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay
- Congenital defects of phagocyte number or function
- Leukocyte adhesion deficiency (LAD)
- Congenital disorder of glycosylation, type IIc 266265
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Glycogen storage disease Ib, OMIM:232220
- Glycogen storage disease Ic, OMIM:232240
- Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
Literature
Phenotypes
- B cell deficiency
- Agammaglobulinemia
- Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Folate malabsorption, hereditary 229050
- Congenital defect of folate absorption
- Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability
- Defects of Vitamin B12 and Folate metabolism
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Lysinuric protein intolerance, 222700
- Severe bacterial infections
- Lysinuric protein intolerance SLC7A7 deficiency
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group P, 613951
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Schimke disease
- Combined immunodeficiencies with associated or syndromic features
- Schimke immunoosseous dysplasia 242900
- Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Congenital defects of phagocyte number or function
- Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Herpes simplex encephalitis
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Osteopetrosis with visual impairment
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy
- Hepatic venoocclusive disease with immunodeficiency 235550
- Hepatic venoocclusive disease with immunodeficiency (VODI)
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Netherton syndrome 256500
- Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review
-
Expert Review Green
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Defects with susceptibility to mycobacterial infection (MSMD)
- Defects in Intrinsic and Innate Immunity
- Susceptibility to mycobacteria
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Schwachman Diamond features
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Bone marrow failure syndrome 1, 614675
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 31A, mycobacteriosis
- Combined immunodeficiency
- Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
- Defects with susceptibility to mycobacterial infection (MSMD)
- Candidiasis, familial, 7
- Severe viral infections, mycobacterial infection
- Chronic mucocutaneous candidiasis (CMC)
- Susceptibility to mycobacteria, Salmonella
- Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
- CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy
- Immunodeficiency 31C, autosomal dominant 614162
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- STAT2 deficiency
- Predisposition to several viral infection
- Severe viral infections (disseminated vaccine-strain measles)
- Defects in Intrinsic and Innate Immunity
- Immunodeficiency 44, 616636
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper-IgE recurrent infection syndrome 147060
- Hyper IgE syndrome (HIES)
- Diseases of Immune Dysregulation
- Early-onset multi-organ autoimmune disease
- Autoimmune disease, multisystem, infantile-onset, 1 615952
- Combined immunodeficiencies with associated or syndromic features
- Autoimmune disease, multisystem, infantile-onset
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
5 green
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification December 2029
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590
- Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
- T-B+ SCID
- Combined immunodeficiency
- Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 10, 612783
- Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
- Combined immunodeficiency
- Combined immunodeficiency due to STIM1 deficiency
- Autoimmunity, EDA, non-progressive myopathy
- T-B+ SCID
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Combined B and T cell defect v1.12
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity
- Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease
- Combined immunodeficiency
- T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
- Immunodeficiencies affecting cellular and humoral immunity
- AR hyperimmunoglobulin E syndrome
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
- Bone marrow failure
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- HLH4
- Hemophagocytic lymphohistiocytosis, familial 4, 603552
- Diseases of Immune Dysregulation
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- FHL4
- HPLH4
- Fever, HSM, cHLH, cytopenias,
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification December 2030
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial 5, 613101
- Diseases of Immune Dysregulation
- Fever, HSM, cHLH, cytopenias, enteropathy
- FHL5
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- HLA class I deficiency
- Immunodeficiencies affecting cellular and humoral immunity
- Vasculitis, pyoderma gangrenosum
- Bare lymphocyte syndrome, type I 604571
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Vasculitis, pyoderma gangrenosum
- Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571
- HLA class I deficiency
- Immunodeficiencies affecting cellular and humoral immunity
- Wegener-like granulomatosis
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Bare lymphocyte syndrome, type I 604571
- Vasculitis, pyoderma gangrenosum
- HLA class I deficiency
- Immunodeficiencies affecting cellular and humoral immunity
- Vasculitis,pyoderma gangrenosum
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Barth syndrome
- 3-methylglutaconic aciduria, type II, 302060
- Congenital defects of phagocyte number or function
- Cardiomyopathy, myopathy, growth retardation, neutropenia
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Herpetic encephalitis (HSE)
- Herpes simplex virus 1 encephalitis
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900
- Herpes simplex encephalitis, susceptibility to
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability
- DiGeorge syndrome 188400
- Di George syndrome
- T-B+ SCID
- Severe combined immunodeficiency (SCID)
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
6 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification December 2031
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinemia 8A, autosomal dominant, OMIM:616941
- Agammaglobulinemia 8B, autosomal recessive, OMIM:619824
- Recurrent bacterial infections
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Defects in intrinsic and innate immunity
- Osteopetrosis with hypocalcemia
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
9 reviews
7 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Agranulocytosis v1.3
-
A- or hypo-gammaglobulinaemia v1.25
-
Combined B and T cell defect v1.12
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Transcobalamin-2 precursor
- Transcobalamin II deficiency
- Agammaglobulinemia
- Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability
- pancytopenia
- Transcobalamin II deficiency, 275350
- neutropenic colitis
- Defects of Vitamin B12 and Folate metabolism
- megaloblastic bone
- can have a presentation similar to severe combined immunodeficiency
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita
- Hoyeraal-Hreidarsson syndrome
- Bone marrow failure
- Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- Dyskeratosis congenita 1
- Combined immunodeficiencies with associated or syndromic features
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- microcephaly, neurodevelopmental delay
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Recurrent infections, neutropenia, thrombocytopenia
- Recurrent infections, thrombocytopenia
- Immunodeficiencies affecting cellular and humoral immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Inflammatory bowel disease, immunodeficiency, and encephalopathy, OMIM:618213
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Loeys-Dietz syndrome 1, 609192
- Loeys Dietz syndrome due to TGFBR1 deficiency
- Combined immunodeficiencies with associated or syndromic features
- Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
- Combined immunodeficiencies with associated or syndromic features
- ALPS-FAS
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Complement Deficiencies
- Thrombomodulin deficiency
- Hemolytic uremic syndrome, atypical, susceptibility to, 6
- Atypical hemolytic-uremic syndrome
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Encephalopathy, acute, infection-induced, susceptibility to, 6 614850
- Herpes simplex virus 1 encephalitis
- Herpetic encephalitis (HSE)
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- microcephaly, neurodevelopmental delay exudative retinopathy
- Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- microcephaly, neurodevelopmental delay
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Staphylococcal disease during childhood
- Defects of TLR/NFkappa-B signalling
- TIRAP deficiency
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Other
-
Victorian Clinical Genetics Services
Phenotypes
- Herpetic encephalitis (HSE)
- Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here)
- Defects in Intrinsic and Innate Immunity
- Herpes simplex encephalitis, susceptibility to, 2
Tags
|
Green
Green List (high evidence)
|
|
1 review
|
Unknown
|
Sources
Phenotypes
- Susceptibility to respiratory syncytial virus
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert list
-
Expert Review Green
-
OMIM
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV)
- Epidermodysplasia verruciformis, 226400
- Defects in Intrinsic and Innate Immunity
- Epidermodysplasia Verruciformis
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- HPV (group B1) infections and cancer of the skin (typical EV)
- Epidermodysplasia verruciformis, 226400
- Defects in Intrinsic and Innate Immunity
- Epidermodysplasia Verruciformis
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
5 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert list
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2032
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- STING-associated vasculopathy, infantile-onset, OMIM:615934
- Type 1 interferonopathies
- Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Literature
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744
- Autoimmune lymphoproliferative syndrome
- Arthralgia, mucosal ulcers, ocular inflammation
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Osteopetrosis
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
4 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- IgA with IgG subclass deficiency
- Immunodeficiency, common variable, 2
- Immunodeficiency, common variable, 2, 240500
- Variable clinical expression
- Isolated IgG subclass deficiency
- IGAD
- Selective IgA deficiency
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
- Immunoglobulin A deficiency 2, 609529
- CVID
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 4
- Variable clinical expression
- Isolated IgG subclass deficiency
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Periodic fever, familial, OMIM:142680
- TNF-receptor associated periodic fever syndrome (TRAPS)
- Recurrent fever, serositis, rash, and ocular or joint inflammation
- Autoinflammatory Disorders
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency
- Immunodeficiencies affecting cellular and humoral immunity
- Impaired immunity to HHV8, Kaposis sarcoma
- Combined immunodeficiency
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- EBV lymphoproliferation, B-cell lymphoma
- CD137 deficiency (41BB)
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Osteopetrosis with severe growth retardation
- Defects in intrinsic and innate immunity
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable with lack of anti-pneumococcal antibody
- Common variable immunodeficiency disorders (CVID)
- Predominantly Antibody Deficiencies
- Pneumonia, bacterial infections, warts, thrombocytopenia
- Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Recurrent infections, facial dysmorphism, limb anomalies
- Hoffman syndrome/TOP2B deficiency
- Predominantly Antibody Deficiencies
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
OMIM
Phenotypes
- Bone marrow failure syndrome 5, 618165
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- immune thrombocytopenia and autoimmune hemolytic anemia
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- TPP2 deficiency
- Tripeptidyl-Peptidase II Deficiency
- Diseases of Immune Dysregulation
- Evans syndrome
- Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Immunodeficiencies affecting cellular and humoral immunity
- Recurrent viral, bacterial, fungal infections, immune dysregulation and autoimmunity, diarrhea
- Immunodeficiency 7, TCR-alpha/beta deficient, 615387
- Combined immunodeficiency
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Herpetic encephalitis (HSE)
- Herpes simplex virus 1 encephalitis
- Defects in Intrinsic and Innate Immunity
- Defects in intrinsic and innate immunity
- {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849
- Herpes simplex encephalitis, susceptibility to, 3
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
Victorian Clinical Genetics Services
Phenotypes
- Defects in Intrinsic and Innate Immunity
- Chronic mucocutaneous candidiasis (CMC)
- Defects in intrinsic and innate immunity
- Candidiasis, familial, 8 615527
- CMC, blepharitis, folliculitis and macroglossia
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Aicardi-Goutieres syndrome 1, dominant and recessive
- Autoinflammatory Disorders
- Type 1 interferonopathies
- Classical AGS, SLE, FCL
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- TRIM22
- Granulomatous colitis
- Autoinflammatory Disorders
- Diseases of Immune Dysregulation
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084
- congenital sideroblastic anemia, deafness, developmental delay
- Predominantly Antibody Deficiencies
- Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa
- Trichohepatoenteric syndrome 1, 222470
- Intrauterine growth retardation, woolly hair
- intractable diarrhoea in infancy requiring total parenteral nutrition
- Hypogammaglobulinaemia
- Predominantly Antibody Deficiencies
- facial dysmorphism
- immune dysfunction
- Trichohepatoenteric syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, 243150
- Immunodeficiencies with multiple intestinal atresias
- Combined immunodeficiency
- Combined immunodeficiency-enteropathy spectrum
- Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype
- Combined immunodeficiencies with associated or syndromic features
- Multiple intestinal atresia and severe combined immunodeficiency
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper IgE syndrome (HIES)
- Defects in Intrinsic and Innate Immunity
- Immunodeficiency 35 611521
- Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- Fanconi anemia, complementation group T, 616435
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial 3, 608898
- Diseases of Immune Dysregulation
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- HPLH3
- HLH3
- FHL3
- Fever, HSM, HLH, cytopenias,
Tags
|
Green
Green List (high evidence)
|
|
7 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
Literature
-
London North GLH
-
Melbourne Genomics Health Alliance Immunology Flagship
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Herpetic encephalitis (HSE)
- Herpes simplex virus 1 encephalitis
- Herpes simplex encephalitis, susceptibility to, 1
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551
- Herpes simplex encephalitis
- Defects in Intrinsic and Innate Immunity
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper IgM syndrome with lymphoid hyperplasia
- Immunodeficiency with hyper IgM, type 5, 608106
- Enlarged lymph nodes and germinal centers
- Predominantly Antibody Deficiencies
- CSR defects and Hyper IgM (HIGM) syndromes
- Immunodeficiency with hyper IgM, type 5
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Poikiloderma with neutropenia, 604173
- Clericuzio-type poikiloderma with neutropenia syndrome
- Congenital defects of phagocyte number or function
- Retinopathy, developmental delay, facial dysmorphisms, poikiloderma
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Pseudo-TORCH syndrome 2, 617397
- Autoinflammatory Disorders
- TORCH like syndrome
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Cohen syndrome, 216550
- Congenital defects of phagocyte number or function
- Dysmorphism, mental retardation, obesity, deafness, neutropenia
- Cohen syndrome
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Congenital neutropaenia v1.22
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- VPS45 deficiency (SCN5)
- Neutropenia, severe congenital 5
- Congenital defects of phagocyte number or function
- Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
- Neutropenia, severe congenital, 5, autosomal recessive, 615285
Tags
|
Green
Green List (high evidence)
|
|
8 reviews
6 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Combined B and T cell defect v1.12
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Wiskott-Aldrich syndrome (WAS)
- Combined immunodeficiencies with associated or syndromic features
- Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies
- Congenital neutropenia
- X-linked thrombocytopenia
- Congenital defects of phagocyte number or function
- X-linked thrombocytopenia with mutations in WASP
- Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis
- Neutropenia, severe congenital, X-linked, 300299
- XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp
- Wiskott-Aldrich syndrome
Tags
|
Green
Green List (high evidence)
|
|
4 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate
- Congenital defects of phagocyte number or function
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- WIP deficiency
- ?Wiskott-Aldrich syndrome 2 614493
- Wiskott-Aldrich syndrome like, WIP deficiency
- Combined immunodeficiencies with associated or syndromic features
- Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
IUIS Classification February 2018
Phenotypes
- Bone marrow failure
- Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- Combined immunodeficiencies with associated or syndromic features
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- microcephaly, neurodevelopmental delay
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphoproliferative syndrome, X-linked, 2 (XLP2)
- inflammatory bowel disease
- 300635
- splenomegaly
- Diseases of Immune Dysregulation
- X-linked lymphoproliferative syndrome (XLP)
- haemophagocytic lymphohistiocytosis
- Lymphoproliferative syndrome, X-linked, 2
- EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia
Tags
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
Phenotypes
- ?Fanconi anemia, complementation group U, 617247
Tags
|
Green
Green List (high evidence)
|
|
6 reviews
5 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GOSH PID v.8.0
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
SCID v1.6
-
Victorian Clinical Genetics Services
Phenotypes
- Selective T-cell defect
- Combined immunodeficiency
- Autoimmune disease, multisystem, infantile-onset, 2
- Immunodeficiency 48
- Severe Combined Immune Deficiency
- Diseases of Immune Dysregulation
- Immunodeficiencies affecting cellular and humoral immunity
- Severe autoimmunity
- Zap-70 deficiency
- May have immune dysregulation, autoimmunity
- Severe combined immunodeficiency (SCID)
Tags
|
Green
Green List (high evidence)
|
|
5 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Green
-
GRID V2.0
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069
- Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
- Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
Tags
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
IUIS Classification December 2019
-
Literature
Phenotypes
- Hyper-IgE syndrome
- Combined immunodeficiencies with associated or syndromic features
- Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Amber
Phenotypes
- Selective CD4 cell deficiency
- OKT4 epitope deficiency, 613949
- Absence of CD4+ T cells
- exuberant, relapsing, treatment-refractory warts
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Phenotypes
- SARS infection, protection against, 605872
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- {Rapid progression to AIDS from HIV1 infection} 609423
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Susceptiblity to MERS-CoV infection
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Phenotypes
- {Norwalk virus infection, resistance to}
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
5 reviews
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
GOSH PID v.8.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- meconium ileus, 614665
- Diarrhea 6, 614616
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Amber
Phenotypes
- Defects with susceptibility to mycobacterial infection (MSMD)
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Phenotypes
- {?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
GRID V2.0
-
Victorian Clinical Genetics Services
Phenotypes
- Systemic lupus erythematous
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Amber
Phenotypes
- Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Other
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Amber
-
GRID V2.0
Phenotypes
- RALD
- RAS-associated autoimmune leukoproliferative disorder, 614470
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Other
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Other
Phenotypes
- {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Other
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Amber
-
GRID V2.0
Phenotypes
- AT-like disorder
- Ataxia-telangiectasia-like disorder 1 604391
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
6 reviews
2 green
|
Other
|
Sources
-
ESID Registry 20171117
-
Expert Review Amber
-
GOSH PID v.8.0
-
GRID V2.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Ras associated lymphoproliferative disease (RALD)
- Autoimmune lymphoproliferative syndrome type IV
- RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
4 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Amber
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Proteasome-associated autoinflammatory syndrome (PRAAS)
Tags
|
Amber
Amber List (moderate evidence)
|
|
5 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
|
Amber
Amber List (moderate evidence)
|
|
5 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
- Autoinflammation, lipodystrophy, and dermatosis syndrome
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Hemophagocytic lymphohistiocytosis
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Literature
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
Phenotypes
- {Asthma, aspirin-induced, susceptibility to}, 208550
- susceptibility to chronic HBV and HCV infection
Tags
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Amber
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Not associated with susceptibility to SARS-coronavirus infection and disease outcomes
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- [Blood group, Duffy system] 110700
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Not set
|
Sources
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
GRID V2.0
-
GRID V2.0North West GLH
-
NHS GMS
-
Victorian Clinical Genetics Services, London North GLH
Phenotypes
- Immune Dysregulation
- Hermansky-pudlak syndrome 9, 614171
- HPS9, palladin deficiency (NK cell defect)
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
-
Other
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
Tags
- ensembl_ids_known_missing
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
Phenotypes
- {West nile virus, susceptibility to}, 610379
- {HIV infection, susceptibility/resistance to}
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Not set
|
Sources
Phenotypes
- {Dengue fever, protection against} 614371
- {HIV type 1, susceptibility to} 609423
- {Mycobacterium tuberculosis, susceptibility to} 607948
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
1 red
|
Other
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
- Mannan-binding lectin serine protease (MASP) deficiency
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
5 reviews
3 red
|
Unknown
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
Expert Review Red
Phenotypes
- X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
GOSH PID v.8.0
Phenotypes
- Diarrhea 5, with tufting enteropathy, congenital, OMIM:613217
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
North West GLH
-
Other
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD)
- CD4 + lymphopenia
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
Unknown
|
Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
5 reviews
2 red
|
Unknown
|
Sources
-
Congenital neutropaenia v1.22
-
ESID Registry 20171117
-
Expert Review Red
-
GRID V2.0
Phenotypes
- Neutropenia,alloimmuneneonatal
- Neutropenia, autoimmune neonatal
- Neutropenia, alloimmune neonatal
- Fc receptor deficiencies
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
2 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
- Localized juvenile peridontitis
Tags
|
Red
Red List (low evidence)
|
|
6 reviews
3 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
Expert Review Red
Phenotypes
- ?Cerebral palsy, spastic quadriplegic, 1, 603513
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
London North GLH
-
NHS GMS
-
North West GLH
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Phenotypes
- {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
Not set
|
Sources
Phenotypes
- {HIV-1 viremia, susceptibility to} 609423
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Phenotypes
- {Beryllium disease, chronic, susceptibility to}
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
- Immunoglobulin chain deficiencies
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
GRID V2.0
Phenotypes
- AutoAb Chronic Mucocutaneous Candidiasis
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
- Defects with susceptibility to mycobacterial infection (MSMD)
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
Phenotypes
- ?Amyloidosis, primary localized cutaneous 2, 613955
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Pooled results for susceptibility to tuberculosis, influenza, respiratory syncytial virus, SARS-Coronavirus and pneumonia infections
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
Not set
|
Sources
Phenotypes
- {AIDS, slow progression to} 609423
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Tags
- currently-ngs-unreportable
- ensembl_ids_known_missing
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
-
Other
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
5 reviews
3 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
A- or hypo-gammaglobulinaemia v1.25
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
- Agammaglobulinemia 5, 613506
- Agammaglobulinemia
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
Phenotypes
- Amyloidosis, renal, 105200
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Bardet-Biedl syndrome 17 OMIM:615994
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
Phenotypes
- Mannan-binding lectin serine protease (MASP) deficiency
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
ESID Registry 20171117
-
Expert Review Amber
-
GRID V2.0
-
Inherited complement deficiency v0.11
-
Literature
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Mannose-binding lectin deficiency (MBL)
- susceptibility to SARS-CoV
- Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
- Chronic infections, due to MBL deficiency
- Mannose-Binding Protein Deficiency, 614372
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital disorder of glycosylation, type Ib, OMIM:602579
- MPI-CDG, MONDO:0011257
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Phenotypes
- 19543266
- 29475942
- 28953980
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Phenotypes
- {Malaria, mild, susceptibility to}, 609148
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
Not set
|
Sources
Phenotypes
- {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Lupus susceptibility
- {Systemic lupus erythematosus susceptibility to}
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
GOSH PID v.8.0
-
London North GLH
-
NHS GMS
-
North West GLH
Phenotypes
- Central hypoventilation syndrome, congenital 209880
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
4 reviews
3 red
|
Unknown
|
Sources
-
Expert Review Red
-
GRID V2.0
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
-
GRID V2.0
-
IUIS Classification December 2019
-
IUIS Classification February 2018
-
London North GLH
-
NHS GMS
-
North West GLH
-
Victorian Clinical Genetics Services
Phenotypes
- Cherubism, OMIM:118400
- Autoinflammatory Disorders
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Phenotypes
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
London North GLH
-
NHS GMS
Phenotypes
- {Systemic lupus erythematosus, susceptibility to, 11}, 612253
Tags
|
Red
Red List (low evidence)
|
|
3 reviews
3 red
|
Unknown
|
Sources
-
ESID Registry 20171117
-
Expert Review Red
-
GOSH PID v.8.0
Phenotypes
- Defects with susceptibility to mycobacterial infection (MSMD)
- Combined immunodeficiency
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Phenotypes
- {Legionnaire disease, susceptibility to} 608556
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Phenotypes
- {Myocardial infarction, susceptibility to} 608446
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
|
Unknown
|
Sources
-
Expert Review Red
-
Literature
Tags
- ensembl_ids_known_missing
|
Red
Red List (low evidence)
|
|
1 review
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Red
Phenotypes
- Susceptibility to herpes simplex encephalitis
Tags
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Red
Red List (low evidence)
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1 review
1 red
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Unknown
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Sources
Tags
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Red
Red List (low evidence)
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1 review
1 red
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Unknown
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Sources
Tags
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Red
Red List (low evidence)
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3 reviews
2 red
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
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ESID Registry 20171117
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Expert Review Red
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GRID V2.0
Phenotypes
- Immunodeficiency 13 615518
- Combined immunodeficiency
- Immunodeficiency 13/ UNC119 deficiency
Tags
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Red
Red List (low evidence)
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1 review
1 red
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Not set
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Sources
Tags
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Red
Red List (low evidence)
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2 reviews
1 red
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Unknown
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Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
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Red
Red List (low evidence)
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|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert list
-
Expert Review Red
-
OMIM
Tags
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Red
Red List (low evidence)
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|
1 review
|
Unknown
|
Sources
Tags
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Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Not set
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
Tags
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