|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Anemia, sideroblastic, with ataxia, MIM# 301310
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- telomere syndrome MONDO:0100137
- dyskeratosis congenita, autosomal dominant 6 MONDO:0014690
- Hoyeraal-Hreidarsson syndrome MONDO:0018045
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert list
Phenotypes
- Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944
- Short stature
- SLE, thrombocytopenia and autoimmune haemolytic anaemia
- Possibly recurrent bacterial and viral infections
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
- MONDO:0007064
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
- MONDO:0007064
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
- common variable immunodeficiency
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Literature
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Literature
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328
- Recurrent infections
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328
- Recurrent infections
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Aicardi-Goutieres syndrome 6, MIM# 615010
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- AMED syndrome, digenic, MIM# 619151
- Aplastic anaemia
- myelodysplasia
- short stature
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Reticular dysgenesis MIM# 267500
- Combined immunodeficiency
- neutropaenia
- leukopaenia
- lymphopaenia
- agranulocytosis
- deafness
- MONDO:0009973
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Reticular dysgenesis MIM# 267500
- MONDO:0009973
- Combined immunodeficiency
- neutropaenia
- leukopaenia
- lymphopaenia
- agranulocytosis
- deafness
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Reticular dysgenesis, MIM# 267500
- MONDO:0009973
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Anemia, sideroblastic, 1, MIM# 300751
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979
- Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Thrombocytopaenia 2, MIM# 188000
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Hermansky-Pudlak syndrome 10, MIM# 617050
- Oculocutaneous albinism
- Severe neutropaenia
- Recurrent infections
- Seizures
- Hearing loss
- Neurodevelopmental delay
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- Immunodeficiency 133 with autoimmunity and autoinflammation MIM#620565
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- inborn error of immunity MONDO:0003778
- Harel-Yoon syndrome MONDO:0014958
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Ataxia-telangiectasia MIM# 208900
- Progressive T cell decrease, poor T-cell proliferation to mitogens
- low IgA, IgE and IgG
- increased IgM monomers
- antibodies variably decreased
- Ataxia
- telangiectasia especially of sclerae
- pulmonary infections
- lymphoreticular and other malignancies
- increased alpha fetoprotein
- increased radiosensitivity, chromosomal instability and chromosomal translocations
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 47, MIM#300972
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 47, MIM# 300972
- Hepatopathy
- Leukopenia
- Low copper
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 43 MIM# 241600
- Sinopulmonary infections
- Purple-red skin lesions
- Decreased serum IgG
- Decreased B cells
- Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c
- MONDO:0009434
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 60, MIM# 618394
- inflammatory bowel disease
- recurrent sinopulmonary infections
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 60, MIM# 618394
- inflammatory bowel disease
- recurrent sinopulmonary infections
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 37, MIM# 616098
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 49, MIM# 617237
- Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Bloom Syndrome MIM# 210900
- Short stature, dysmorphic facies
- sun-sensitive
- immunoglobulin deficiency (IgA, IgG, IgM)
- erythema
- marrow failure
- leukaemia
- lymphoma
- chromosomal instability
- predisposition to malignancies
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinaemia 4, MIM# 613502
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hermansky-Pudlak syndrome 9, MIM# 614171
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Fanconi anemia, complementation group S, MIM# 617883
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group D1, MIM# 605724
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group J, MIM# 609054
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinaemia, X-linked 1, MIM# 300755
- Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- Chronic granulomatous disease 5, autosomal recessive, MIM# 618935
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C1q deficiency, MIM# 613652
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C1q deficiency, MIM# 613652
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C1q deficiency MIM#613652
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C1s deficiency MIM#613783
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C8 deficiency, type II MIM#613789
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 11A, autosomal recessive, MIM# 615206
- Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 2, autosomal recessive, MIM# 212050
- Predisposition to invasive fungal disease, MONDO:0008905
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 2, autosomal recessive, MIM# 212050
- Predisposition to invasive fungal disease, MONDO:0008905
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Early onset paediatric inflammatory bowel disease
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 58, MIM# 618131
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type II MIM#603909
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune lymphoproliferative syndrome, type II MIM#603909
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510
- lymphangiectasia and lymphoedema
- facial abnormalities
- dysmorphic features
- hypoalbuminaemia
- intellectual disability
- hypoglobulinaemia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Polycystic lung disease MIM#219600
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- {Hepatitis C virus, resistance to} 609532
- {HIV infection, susceptibility/resistance to}
- {West nile virus, susceptibility to}MIM# 610379
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 3, MIM# 613493
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 3, MIM#613493
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 25, MIM# 610163
- Absent T cells
- Normal B cells
- Normal NK cells
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lymphoproliferative syndrome 2, MIM# 615122
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphoproliferative syndrome 2
- CD27-deficiency MIM# 615122
- hepatosplenomegaly
- reduced CD8+ T-cell function
- lymphadenopathy
- hepatosplenomegaly
- fever
- increased susceptibility to EBV infection
- aplastic anaemia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphoproliferative syndrome 2
- CD27-deficiency MIM# 615122
- hepatosplenomegaly
- reduced CD8+ T-cell function
- lymphadenopathy
- hepatosplenomegaly
- fever
- increased susceptibility to EBV infection
- aplastic anaemia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lymphoproliferative syndrome 2, MIM# 615122
- Host response to EBV
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 19 MIM# 615617
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 18 MIM# 615615
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 17, CD3 gamma deficient MIM# 615607
- immune deficiency
- autoimmunity
- failure to thrive
- recurrent gastrointestinal infections
- recurrent respiratory infections
- autoimmune haemolytic anaemia
- Bronchiolitis obliterans
- low CD3 complex
- partial T lymphocytopenia
- intractable diarrhoea.
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 79, MIM# 619238
- Absence of CD4+ T cells
- exuberant, relapsing, treatment-refractory warts
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
- Severe opportunistic infections (recurrent), idiopathic neutropaenia
- dysgammaglobulinaemia hepatitis
- cholangitis
- cholangiocarcinoma
- autoimmune blood cytopenias
- haemolytic anaemia
- thrombocytopaenia
- diarrhoea
- peripheral neuroectodermal tumours
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert list
Phenotypes
- Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lymphoproliferative syndrome 3, MIM# 618261
- Host response to EBV
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert list
Phenotypes
- Lymphoproliferative syndrome 3, MIM# 618261
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinaemia 3, MIM#613501
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinaemia 6, MIM# 612692
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 6, MIM# 613496
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 6, MIM# 613496
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyserythropoietic anemia, congenital, type Ia, 224120
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Neonatal-onset cytopaenia with dyshaematopoiesis
- autoinflammation
- rash
- HLH
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Specific granule deficiency, MIM# 245480
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Cystic fibrosis, MIM# 219700
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- CHARGE syndrome MIM# 214800
- Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370
- Kallmann syndrome
- hypogonadotropic hypogonadism with or without anosmia (HH)
- Coloboma of the eye
- heart anomaly
- choanal atresia
- intellectual disability
- genital and ear anomalies, Deafness
- Delayed pubertal development
- CNS malformation
- Cleft lip
- SCID-like features
- lymphopaenia
- sever T-cell deficiency
- hypogammaglobulinaemia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined immunodeficiency, MONDO:0015131, CHUK-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Epidermodysplasia verruciformis 3, MIM# 618267
- HPV infections and cancer of the skin
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Epidermodysplasia verruciformis 3 618267
- HPV infections and cancer of the skin
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920
- varied ID
- bronchiolitis
- pneumonia
- severe autoimmune cytopaenia
- CD4 T-cell lymphopaenia
- hypogammaglobulinemia
- absence of antigen-induced immune response
- chronic diarrhoea
- recurrent respiratory infections
- recurrent gastroenteritis
- failure to thrive
- liver/biliary tract disease
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 4 MIM#611490
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
- Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
- 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271
- congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Intellectual developmental disorder 34 (MIM#616351)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune interstitial lung, joint, and kidney disease, MIM 616414
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 8, MIM# 615401
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 7, MIM# 614699
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 7, MIM# 614699
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type V, MIM# 616100
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 24, MIM# 615897
- Recurrent/chronic bacterial and viral infections (EBV, VZV)
- EBV lymphoproliferation
- B-cell non-Hodgkin lymphoma
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 24, MIM# 615897
- Recurrent/chronic bacterial and viral infections (EBV, VZV)
- EBV lymphoproliferation
- B-cell non-Hodgkin lymphoma
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Papillon-Lefevre syndrome, MIM# 245000
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- WHIM syndrome, MIM# 193670
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- WHIM syndrome 1, MIM# 193670
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- WHIM syndrome 1, MIM# 193670
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease 4, autosomal recessive, MIM# 233690
- MONDO:0009308
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease, X-linked, MIM# 306400
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease, X-linked, MIM# 306400
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441
- Viral infections of the brainstem
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Dyskeratosis congenita, autosomal recessive 8, MIM# 620133
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, Athabascan type MIM# 602450
- Omenn syndrome MIM# 603554
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, Athabascan type MIM# 602450
- Absent/reduced T and B cells
- decreased Ig levels
- Normal NK cell number
- increased risk of graft rejection possibly due to activated NK cells
- radiation sensitivity
- failure to thrive
- recurrent respiratory infections
- diarrhoea
- fever
- hypogammmaglobulinaemia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lupus Nephritis, MONDO:0005556, DDX58-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 87 and autoimmunity, MIM# 619573
- Systemic autoimmunity
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Seizures, cortical blindness, microcephaly syndrome, MIM# 616632
- Combined Immune deficiency
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, X-linked 305000
- Hoyeraal-Hreidarsson Syndrome
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, X-linked MIM# 305000
- Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- microcephaly, immunodeficiency
- aplastic anaemia
- thrombocytopaenia
- neurodevelopmental delay
- cerebellar hypoplasia
- opportunistic infections
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Dyskeratosis congenita, X-linked, MIM# 305000
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bone marrow failure syndrome 3, MIM# 617052
- Short stature
- Exocrine pancreatic insufficiency
- Pancytopaenia
- Shwachman-Diamond syndrome
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bone marrow failure syndrome 3, MIM# 617052
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Systemic lupus erythematosus 16, MIM# 614420
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Autoinflammatory-pancytopenia syndrome, MIM#619858
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Autoinflammatory-pancytopaenia syndrome, MIM# 619858
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860
- facial dysmorphic features
- flat nasal bridge
- developmental delay
- macroglossia
- bacterial/opportunistic infections (recurrent)
- malabsorption
- cytopaenia
- malignancies
- multiradial configurations of chromosomes 1, 9, 16
- Hypogammaglobulinaemia
- agammaglobulinaemia
- variable antibody deficiency
- decreased immunoglobulin production
- low T/B/NK cells
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109
- Inflammatory bowel disease
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 40 MIM# 616433
- T/B-cell lymphopaenia
- early-onset invasive herpes/viral/bacterial Infections
- function defects in T/B/NK cells
- immunodeficiency
- defective IFN-mediated immunity
- elevated IgM
- normal IgG/IgA levels
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700
- T cell Lymphopaenia
- decraese T/B/NK cells
- Eosinophilia
- low IgM
- elevated IgE
- recurrent cutaneous/ viral/ bacterial/ fungal/ infections
- severe atopy/allergic disease
- autoimmune haemolytic anaemia
- eczema
- cancer diathesis
Tags
|
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- hatipoglu immunodeficiency syndrome MONDO:0957229
Tags
|
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
-
Expert Review Green
-
Expert Review
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome MONDO:0019751, DPP9-related
- recurrent fevers
- repeated infections
- herpes susceptibility
- cytopaenias
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Other
Phenotypes
- severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Inflammatory bowel disease, MONDO:0005265, DUOX2-related
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Shwachman-Diamond syndrome 2, MIM# 617941
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Shwachman-Diamond syndrome 2, MIM# 617941
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropenia, cyclic MIM#162800
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
- Neutropaenia, cyclic, MIM# 162800
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Vici syndrome, MIM# 242840
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group Q, MIM# 615272
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bone marrow failure syndrome 2, MIM# 615715
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bone marrow failure syndrome 2, MIM# 615715
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Myelodysplasia syndrome, MONDO:0018881, ERG-related
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Thrombocytopenia 5, MIM# 616216
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Angioedema, hereditary, 3, MIM# 610618
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- FADD-related immunodeficiency MONDO:0013408
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- FADD-related immunodeficiency MONDO:0013408
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group A, MIM# 227650
- MONDO:0009215
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group B, MIM# 300514
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group C, MIM# 227645
- MONDO:0009213
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group D2, MIM# 227646
- MONDO:0009214
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group E, MIM# 600901
- MONDO:0010953
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group F 603467
- MONDO:0011325
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group G, MIM# 614082
- MONDO:0013565
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group I, MIM# 609053
- MONDO:0012186
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group L, MIM# 614083
- MONDO:0013566
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IA MIM#601859
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- autoimmune lymphoproliferative syndrome MONDO:0017979
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IB MIM#601859
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006
- Low/variable T and B cells
- Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 76, MIM# 619164
- Combined immunodeficiency
- T cells: low, poor proliferation
- B cells: normal number
- Recurrent infections (viral, mycobacteria, bacterial, fungal)
- lymphoproliferation
- Failure to thrive
- Increased activation-induced T-cell death
- Defective clathrin-mediated endocytosis
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Kindler syndrome MONDO:0008260
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Leukocyte adhesion deficiency, type III, MIM# 612840
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
-
Literature
Phenotypes
- Hypertrophic Cardiomyopathy
- Primary Immunodeficiency
- Agammaglobulinemia
- Neutropenia
- Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705
- T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541
- MONDO:0012930
- Dursun syndrome, MIM# 612541
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541
- MONDO:0012930
- Dursun syndrome, MIM# 612541
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Hemolytic anemia, G6PD deficient (favism), MIM# 300908
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Thrombocytopenia 12, syndromic, MIM#620776
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
-
Victorian Clinical Genetics Services
Phenotypes
- Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 21, MIM# 614172
- GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982
- Emberger syndrome, MIM# 614038
- Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Emberger syndrome, MIM# 614038
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- portal hypertension, noncirrhotic, 2 MONDO:0030397
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Portal hypertension, noncirrhotic, 2, MIM# 619463
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome MONDO:0019751, GIMAP6-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 55, MIM#617827
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
- Kostmann syndrome MONDO:0012548
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
- Kostmann syndrome MONDO:0012548
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Diamond-Blackfan anaemia 21, MIM# 620072
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Heme oxygenase-1 deficiency, MIM# 614034
- Asplenia
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- 3-methylglutaconic aciduria, type VIII, MIM# 617248
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 59 and hypoglycemia, MIM# 233600
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 1 MIM# 607594
- recurrent bacterial respiratory/gastrointestinal infections
- autoimmunity
- gastroenteritis
- low IgG/IgA
- normal-low IgM
- hypogammaglobulinaemia
- low-normal B-cells
- normal T-cells
- Bronchitis
- Lymphadenopathy
- Hepatomegaly
- Diarrhoea
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 1 MIM# 607594
- recurrent bacterial respiratory/gastrointestinal infections
- autoimmunity
- gastroenteritis
- low IgG/IgA
- normal-low IgM
- hypogammaglobulinaemia
- low-normal B-cells
- normal T-cells
- Bronchitis
- Lymphadenopathy
- Hepatomegaly
- Diarrhoea
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Aicardi-Goutieres syndrome 7, MIM# 615846
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Inflammatory Bowel Disease
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Severe viral respiratory infections
- Rhinovirus and other RNA viruses
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 95 MIM#619773
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- immunodeficiency 106, susceptibility to viral infections MONDO:0030970
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 106, susceptibility to viral infections, MIM# 619935
- Severe disease caused by Yellow Fever vaccine and Measles vaccine
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 45, MIM# 616669
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- immunodeficiency 45 MONDO:0014727
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950
- Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 28, mycobacteriosis, MIM# 614889
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Agammaglobulinemia 1, MIM# 601495
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinaemia 2, MIM# 613500
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 15A, autosomal dominant, MIM# 618204
- Immunodeficiency 15B, autosomal recessive, MIM# 615592
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Ectodermal dysplasia and immunodeficiency 1 MIM# 300291
- Immunodeficiency 33 MIM# 300636
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Autoinflammatory disease, systemic, X-linked, MIM# 301081
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 13 MIM# 616873
- recurrent bacterial respiratory infections
- Thrombocytopaenia
- immunodeficiency
- Hypogammaglobulinaemia
- decrease B-cells
- decrease B-cell differentiation
- decrease memory B/T cells
- Low Ig
- pneumocystis early CID onset
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency, common variable, 13, MIM# 616873
- Low IgG, IgA, IgM, low or normal B cells
- B cells and Ig levels reduce with age
- Decreased pro-B cells
- Recurrent sinopulmonary infections
- Increased risk of ALL, autoimmunity
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 13 MIM# 616873
- recurrent bacterial respiratory infections
- Thrombocytopaenia
- immunodeficiency
- Hypogammaglobulinaemia
- decrease B-cells
- decrease B-cell differentiation
- decrease memory B/T cells
- Low Ig
- pneumocystis early CID onset
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- HELIOS deficiency MONDO:0800139
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency, MONDO:0021094, IKZF2-related
- Immune dysregulation
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 84, MIM# 619437
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Diseases of Immune Dysregulation
- Early-onset inflammatory bowel disease
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 29, mycobacteriosis, MIM# 614890
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 30, MIM# 614891
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 51, MIM# 613953
- MONDO:0013500
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 51, MIM# 613953
- MONDO:0013500
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 9, MIM# 616445
- MONDO:0014642
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 9, MIM# 616445
- MONDO:0014642
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Interleukin 1 receptor antagonist deficiency, MIM# 612852
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 56, MIM# 615207
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency disease, MONDO:0021094
- Susceptibility to mycobacteria and Salmonella
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495
- Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency, X-linked, moderate MIM# 312863
- Severe combined immunodeficiency, X-linked MIM# 300400
- recurrent viral/fungal/bacterial infections
- Low T/NK cells
- Low Ig levels
- lymphocytopaenia
- hypogammaglobulinaemia
- failure to thrive
- diarrhoea
- Pneumonia
- Thymic hypoplasia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency, X-linked, moderate MIM# 312863
- Severe combined immunodeficiency, X-linked MIM# 300400
- recurrent viral/fungal/bacterial infections
- Low T/NK cells
- Low Ig levels
- lymphocytopaenia
- hypogammaglobulinaemia
- failure to thrive
- diarrhoea
- Pneumonia
- Thymic hypoplasia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Psoriasis 14, pustular, MIM# 614204
- Autoinflammatory syndrome, MONDO:0019751, IL36RN-related
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Literature
-
Expert Review Green
-
Expert list
Phenotypes
- Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523
- Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response
- Hyper-IgE syndrome, autosomal dominant
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined immunodeficiency, MONDO:0015131, IL7-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- severe combined immunodeficiency 104 MIM#608971
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- severe combined immunodeficiency 104 MIM#608971
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472
- Loeys-Dietz syndrome-like
- cardiovascular, neurologic, skeletal and immunologic abnormalities
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome, MONDO:0019751, IRAK4-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 67, MIM# 607676
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Literature
Phenotypes
- Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency, common variable, 14 MIM#617765
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Expert list
Phenotypes
- Immunodeficiency, common variable, 14, MIM# 617765
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- combined immunodeficiency MONDO:0015131
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Combined immunodeficiency, MONDO:0015131, IRF4-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 39, MIM# 616345
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 39, MIM# 616345
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893
- Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 38, MIM# 616126
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Leukocyte adhesion deficiency, MIM# 116920
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lymphoproliferative syndrome 1, MIM# 613011
- EBV associated B call lymphoproliferation, lymphoma
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphoproliferative syndrome 1 MIM# 613011
- Lymphadenopathy
- Recurrent infections
- Hypogammaglobulinaemia
- Evidence of EBV infection
- EBV associated B cell Lymphoproliferation
- High EBV viral load
- Normal-low serum Ig
- Depleted CD4+ T cells
- Anaemia
- Thrombocytopaenia
- Hepatosplenomegaly
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lymphoproliferative syndrome 1, MIM# 613011
- EBV- associated B cell lymphoproliferation, lymphoma
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Lymphoproliferative syndrome 1 MIM#613011
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Combined immunodeficiency, MONDO:0015131, ITPR3-related
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 70, MIM#618969
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Eosinophilia
- Eosinophilic enteritis
- Thyroid disease
- Poor growth
- Viral infections
- Viral infections
- Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- SCID, autosomal recessive, T-negative/B-positive type MIM# 600802
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Kabuki syndrome 2 MIM#300867
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673
- MONDO:0013355
- Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Kabuki syndrome 1 MIM#147920
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- RAS-associated autoimmune leukoproliferative disorder MIM#614470
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Literature
Phenotypes
- juvenile arthritis due to defect in LACC1 MONDO:0032920
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 52, MIM# 617514
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 22 MIM# 615758
- Recurrent infections
- Immune dysregulation
- autoimmunity
- Low CD4+
- low CD8+
- restricted T cell repertoire
- poor TCR signaling
- Normal IgG/IgA
- high IgM
- failure to thrive
- diarrhoea
- lymphopenia
- hypogammaglobulinemia
- anaemia
- thrombocytopaenia
- CD4+ T-cell lymphopenia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 81, MIM# 619374
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Combined immunodeficiency
- Lymphopaenia
- Hypogammaglobulinaemia
- Recurrent bacterial and viral infections
- Growth retardation
- Sun sensitivity, radiation sensitivity
- Macrocytosis
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 96, MIM# 619774
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- LIG4 syndrome MIM# 606593
- T-/B- lymphocytopaenia
- Normal NK, radiation sensitivity
- Microcephaly
- low B/C cells
- low Ig
- raised IgM
- failure to thrive
- bacterial/viral/fungal infections
- hypogammaglobulinaemia
- neurodevelopmental delay
- microcephaly
- pancytopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- LIG4 syndrome, MIM# 606593
- DNA ligase IV deficiency, MONDO:0011686
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- LIG4 syndrome MIM# 606593
- T-/B-lymphocytopaenia
- Normal NK, radiation sensitivity
- Microcephaly
- absent/low B and T cells
- low Ig
- raised IgM
- failure to thrive
- bacterial/viral/fungal infections
- hypogammaglobulinaemia
- neurodevelopmental delay
- microcephaly
- pancytopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- LIG4 syndrome, MIM# 606593
Tags
|
|
Green
Green List (high evidence)
|
|
4 reviews
4 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- LIG4 syndrome, MIM# 606593
- Immune dysregulation
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Majeed syndrome, MIM# 609628
- Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Literature
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700
- Recurrent infections
- Inflammatory bowel disease
- Autoimmunity
- EBV infections
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700
- Normal-decreased CD4 numbers
- T cell dysregulation
- Low-normal B cells
- Reduced IgG and IgA
- Recurrent infections
- chronic diarrhoea
- inflammatory bowel disease
- hypogammaglobulinaemia
- pneumonitis
- autoimmune disorders
- thrombocytopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory disease, systemic, with vasculitis, MIM# 620376
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory disease, systemic, with vasculitis MONDO:0957271
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM#300853
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853
- XMEN
- Low CD4
- inverted CD4/CD8 ratio
- reduced MAIT cells
- poor proliferation to CD3
- decreased memory B cells
- progressive hypogammaglobulinaemia
- reduced NK cell
- EBV infection
- lymphoma
- viral infections
- respiratory and GI infections
- Glycosylation defects
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 12 MIM# 615468
- poor T-cell proliferation
- normal T/B cell numbers
- poor specific antibody response
- recurrent bacterial/fungal/viral infections
- bronchiectasis
- failure to thrive
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 112, MIM# 620449
- NIK deficiency
- Poor T cell proliferation to antigen
- Low B-cell numbers
- Low NK number and function
- recurrent bacterial/viral/ cryptosporidium infections
- hypogammaglobulinaemia
- decreased immunoglobulin levels
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 112, MIM# 620449
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
-
Literature
Phenotypes
- Tumor predisposition syndrome 2 - MIM#619975
- Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
-
Literature
Phenotypes
- Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
- Bone marrow failure without radioulnar synostosis (RUS)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Familial Mediterranean fever, AD, MIM# 134610
- Familial Mediterranean fever, AR, MIM# 249100
- Neutrophilic dermatosis, MIM#608068
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Congenital disorder of glycosylation, type IIb, MIM# 606056
- Severe hypogammaglobulinaemia
- Bacterial and viral infections
- Severe neurologic disease
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital disorder of glycosylation, type IIb, MIM# 606056
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Congenital disorder of glycosylation, type IIb MIM#606056
- Mannosyl-oligosaccharide glucosidase deficiency (MOGS)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 77, MIM# 619223
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Myelofibrosis with myeloid metaplasia, somatic, MIM#254450
- Thrombocythemia 2, MIM#601977, AD, SMu
- Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 50, MIM# 300988
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
-
Expert list
Phenotypes
- Immunodeficiency 50, MIM# 300988
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 50, MIM# 300988
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
- Decreased Ig levels
- poor antibody responses to conjugated polysaccharide antigens
- low B/T/NK cells
- Recurrent bacterial infection
- megaloblastic anaemia
- failure to thrive
- neutropenia
- seizures
- intellectual disability
- folate-responsive
- Lymphopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper-IgD syndrome (MIM#260920)
- Mevalonic aciduria (MIM#610377)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 68, MIM# 612260
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bone marrow failure syndrome 4, MIM#618116
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Bone marrow failure syndrome 4, MIM#618116
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800
- Infantile liver failure syndrome 2 MIM#616483
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Gray platelet syndrome, MIM# 139090
- Immune dysregulation
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Victorian Clinical Genetics Services
Phenotypes
- Gray platelet syndrome, MIM# 139090
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Nijmegen breakage syndrome, MIM#251260
- Aplastic anemia, MIM#609135
- Leukemia, acute lymphoblastic, MIM#613065
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Nijmegen breakage syndrome, MIM#251260
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease 1, autosomal recessive, MIM# 233700
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Chronic granulomatous disease 2, autosomal recessive, MIM# 233710
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- immunodeficiency 72 with autoinflammation MONDO:0033551
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- Immunodeficiency
- Immune dysregulation
- Immunodeficiency 72 with autoinflammation, MIM# 618982
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Acne inversa, familial, 1 MIM#142690
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744
- Recurrent respiratory and skin infection
- Growth retardation
- Developmental delay, borderline ID
- White matter cerebral lesions
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 12 MIM# 616576
- Normal-low IgG, IgA, IgM
- low-normal B cells
- low switched memory B cells
- hypogammaglobulinaemia
- recurrent respiratory and gastrointestinal infections
- Chronic obstructive pulmonary disease COPD
- EBV proliferation
- autoimmunity
- alopecia
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 12 MIM# 616576
- Normal-low IgG, IgA, IgM
- low-normal B cells
- low switched memory B cells
- hypogammaglobulinaemia
- recurrent respiratory and gastrointestinal infections
- Chronic obstructive pulmonary disease COPD
- EBV proliferation
- autoimmunity
- alopecia
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 12 MIM# 616576
- Normal-low IgG, IgA, IgM
- low-normal B cells
- low switched memory B cells
- hypogammaglobulinaemia
- recurrent respiratory and gastrointestinal infections
- Chronic obstructive pulmonary disease COPD
- EBV proliferation
- autoimmunity
- alopecia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 10 MIM# 615577
- Low serum IgG, IgA, IgM
- low B cell numbers
- low switched memory B cells
- Recurrent sinopulmonary infections, Alopecia
- endocrinopathies
- ACTH deficiency
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 10 MIM# 615577
- Low serum IgG, IgA, IgM
- low B cell numbers
- low switched memory B cells
- Recurrent sinopulmonary infections, Alopecia
- endocrinopathies
- ACTH deficiency
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 10 MIM# 615577
- Low serum IgG, IgA, IgM
- low B cell numbers
- low switched memory B cells
- Recurrent sinopulmonary infections, Alopecia
- endocrinopathies
- ACTH deficiency
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Ectodermal dysplasia and immunodeficiency 2 MIM# 612132
- Ectodermal dysplasia
- TCR/ BCR activation impaired
- low memory and isotype switched B cells
- decreased IgG and IgA
- elevated IgM
- poor specific antibody responses
- diarrhoea
- agammaglobulinaemia
- ectodermal dysplasia
- recurrent respiratory and gastrointestinal infections
- colitis
- variable defects of skin, hair and teeth
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291
- MONDO:0012650
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 2 MIM# 613987
- Shortened telomeres
- Leukoplakia
- Nail dystrophy
- Bone marrow failure
- Pancytopaenia
- reticulate skin pigmentation
- Thrombocytopaenia
- recurrent opportunistic infections
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Familial cold autoinflammatory syndrome 4 - MIM#616115
- Autoinflammation with infantile enterocolitis - MIM#616050
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Autoinflammation with arthritis and dyskeratosis, MIM# 617388
- Palmoplantar carcinoma, multiple self-healing 615225
- Recurrent respiratory papillomatosis
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Familial cold autoinflammatory syndrome 2 - MIM#611762
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Familial cold inflammatory syndrome 1, MIM# 120100
- Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772
- CINCA syndrome, MIM#12032915 607115
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Blau syndrome, MIM# 186580
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- {Inflammatory bowel disease 1, Crohn disease} 266600
- {Yao syndrome} 617321
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- radial ray defects
- short stature
- nail dsytrophy
- bone marrow failure
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- autoimmune lymphoproliferative syndrome type 4 MONDO:0013767
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Severe combined immunodeficiency
- omenn syndrome
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Literature
Phenotypes
- Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 9, MIM# 612782
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 5 MIM#259720
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030
- Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anaemia, complementation group N, MIM# 610832
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Syndromic SCID
- dysmorphism
- ear abnormalities
- Otofaciocervical syndrome 2, MIM# 615560
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
NHS GMS
-
Expert Review Green
-
Expert list
Phenotypes
- Prolidase deficiency, MIM#170100
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 23, MIM# 615816
- PGM3-CDG, MONDO:0014353
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 14, MIM# 615513
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 14B, autosomal recessive, MIM# 619281
- Immunodeficiency 14A, autosomal dominant, MIM# 615513
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 97 with autoinflammation, MIM# 619802
- Immune dysregulation
- HLH-like
- childhood-onset antibody defects
- cytopenias
- T lymphocytic pneumonitis and colitis
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 36 MIM#616005
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Common variable immunodeficiency
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related
- Susceptibility to herpes virus
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 6 MIM#611497
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Hereditary angioedema-4 (HAE4), MIM#619360
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179
- Autoimmune hemolytic anaemia
- neurological impairment
- SCID
- CID
- hypouricaemia
- failure to thrive
- chronic diarrhoea
- recurrent respiratory/ gastrointestinal infections
- normal-low Ig levels
- spastic paresis
- tremor
- ataxia
- DD
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- X-linked reticulate pigmentary disorder MONDO:0010523
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Telomere biology syndrome MONDO:0100137
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 120, MIM# 620836
- Low CD4 T cells
- Low B cells, normal maturation
- recurrent respiratory tract infections, skin infections, warts and molluscum
- short stature
- intellectual disability
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 122, MIM# 620869
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- FILS syndrome, MIM# 615139
- IMAGE-I syndrome, MIM# 618336
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Combined immunodeficiency
- Autoinflammation
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- proteasome-associated autoinflammatory syndrome 2 MONDO:0054700
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Hereditary neoplastic syndrome, MONDO:0015356, POT1-related
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type III, MIM# 615559
- CVID 9
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune lymphoproliferative syndrome, type III MIM#615559
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type III, MIM# 615559
- CVID 9
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966
- Absent T and B cells
- normal NK cells
- SCID
- recurrent respiratory infections
- microcephaly
- seizures
- developmental delay
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- ?Acne inversa, familial, 3 MIM#613737
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Proteasome-associated autoinflammatory syndrome 5, MIM# 619175
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Severe combined immunodeficiency, MONDO:0015974, PSMB10-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1, MIM# 256040
- MONDO:0054698
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591
- Proteasome-associated autoinflammatory syndrome 6, MIM# 620796
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Stankiewicz-Isidor syndrome MONDO:0054591
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
- Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979
- Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
- PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 126, MIM# 620931
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 126, MIM# 620931
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Macrocephaly/autism syndrome MIM#605309
- Cowden syndrome 1 MIM#158350
- Skewed immune repertoire composition
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- PTEN hamartoma tumor syndrome MONDO:0017623
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
- Hepatitis C virus, susceptibility to MIM# 609532
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Griscelli syndrome, type 2, MIM# 607624
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203
- Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987
- Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- SCID
- recurrent bacterial and viral infections
- lymphoproliferation
- neutropaenia
- reticular dysgenesis
- deafness
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- SCID
- recurrent bacterial and viral infections
- lymphoproliferation
- neutropaenia
- reticular dysgenesis
- deafness
- selective IgA deficiency
- Reduced Ab responses following vaccination
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutrophil immunodeficiency syndrome, MIM# 608203
- Common variable immunodeficiency
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Nijmegen breakage syndrome-like disorder, MIM# 613078
- Hypogammaglobulinaemia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group O, MIM# 613390
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889
- Combined cellular and humoral immune defects with granulomas MIM# 233650
- Omenn syndrome MIM# 603554
- Severe combined immunodeficiency, B cell-negative MIM# 601457
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, B cell-negative (MIM#601457)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Severe combined immunodeficiency, B cell-negative (MIM#601457)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Omenn syndrome MIM# 603554
- Severe combined immunodeficiency, B cell-negative MIM# 601457
- Combined cellular and humoral immune defects with granulomas MIM# 233650
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 64, MIM#618534
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895
- muscular weakness
- cardiomyopathy
- recurrent bacterial/viral infections
- autoinflammation
- immunodeficiency
- Poor antibody responses to polysaccharides
- failure to thrive
- fever
- pneumonia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895
- muscular weakness
- cardiomyopathy
- recurrent bacterial/viral infections
- autoinflammation
- immunodeficiency
- Poor antibody responses to polysaccharides
- failure to thrive
- fever
- pneumonia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Thrombocytopenia-absent radius syndrome, MIM# 274000
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Rothmund-Thomson syndrome MONDO:0010002
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mucocutaneous ulceration, chronic, MIM# 618287
- Inflammatory bowel disease
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Mucocutaneous ulceration, chronic, MIM# 618287
- Impaired NFkB activation
- reduced production of inflammatory cytokines
- autoimmune cytopaenias
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Mucocutaneous ulceration, chronic, MIM# 618287
- periodic fever, inflammatory bowel disease, JIA
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 53, MIM# 617585
- T cells: normal number, poor diversity, poor function
- recurrent infections
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Bare lymphocyte syndrome, type II, complementation group C MIM# 209920
- Bare lymphocyte syndrome, type II, complementation group E MIM# 209920
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- MHC class II deficiency, complementation group B MIM# 209920
- Bare Lymphocyte Syndrome, type II, complementation group B
- Low CD4+ T cells
- reduced MHC II expression on lymphocytes
- Normal-low Ig levels
- Failure to thrive
- respiratory/gastrointestinal infections
- liver/biliary tract disease
- diarrhoea
- Severe autoimmune cytopaenia
- agammaglobulinaemia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Bare lymphocyte syndrome, type II, complementation group D MIM# 209920
- Low CD4+ T cells
- reduced MHC II expression on lymphocytes
- Normal-low Ig levels
- Failure to thrive
- respiratory/gastrointestinal infections
- liver/biliary tract disease
- diarrhoea
- Severe autoimmune cytopaenia
- agammaglobulinaemia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Pneumonia
- Colitis
- Immunodeficiency
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 57, MIM#618108
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 57, MIM#618108
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Literature
Phenotypes
- autoinflammation with episodic fever and lymphadenopathy MONDO:0030018
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Cartilage-hair hypoplasia, MIM# 250250
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Cartilage hair hypoplasia (CHH) MIM#250250
- shortened limbs
- short stature
- metaphysical dysplasia
- fine, sparse and/or light-coloured hair
- hematologic abnormalities
- CID
- impaired lymphocyte proliferation
- low Ig levels
- antibodies variably decreased
- bone marrow failure
- autoimmunity
- susceptibility to lymphoma and other cancers
- impaired spermatogenesis
- neuronal dysplasia of the intestine
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Aicardi-Goutieres syndrome 4, MIM# 610333
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Aicardi-Goutieres syndrome 2, MIM# 610181
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Aicardi-Goutieres syndrome 3, MIM# 610329
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- RIDDLE syndrome MIM# 611943
- Radiosensitivity
- Immune Deficiency
- Dysmorphic Features
- Learning difficulties
- Low IgG or IgA
- Short stature
- mild defect of motor control to ataxia
- normal intelligence to learning difficulties
- mild facial dysmorphism to microcephaly
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lowry-Wood syndrome MIM#226960
- Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710
- Roifman syndrome MIM#616651
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Other
Phenotypes
- Aicardi-Goutieres syndrome 9 (MIM#619487)
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 42, MIM# 616622
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 42, MIM# 616622
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
- Bone marrow failure
- T- and B-cell lymphopaenia
- pulmonary fibrosis
- skin manifestations
- short telomeres
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 7, MIM# 612562
- MONDO:0012938
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Diamond-Blackfan anemia 12, MIM# 615550
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Diamond-Blackfan anemia 11, MIM# 614900
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 5, MIM# 612528
- MONDO:0012925
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anaemia 6, MIM# 612561
- MONDO:0012937
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anaemia 9, MIM# 613308
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Diamond-Blackfan anaemia 4, MIM# 612527
- MONDO:0012924
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 1, MIM# 105650
- MONDO:0007110
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-blackfan anemia 3, MIM# 610629
- MONDO:0012529
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 10, MIM# 613309
- MONDO:0013217
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 8, MIM# 612563
- MONDO:0012939
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Asplenia, isolated congenital, MIM# 271400
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, MIM# 615190
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal dominant 4 MIM# 615190
- Dyskeratosis congenita, autosomal recessive 5 MIM# 615190
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- MIRAGE syndrome, MIM# 617053
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- MIRAGE syndrome, MIM#617053
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Ataxia-pancytopenia syndrome, MIM# 159550
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Aicardi-Goutieres syndrome 5, MIM# 612952
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 102, MIM# 301082
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 102, MIM# 301082
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Systemic lupus erythematosus, MONDO:0007915, SAT1-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Shwachman-Diamond syndrome, MIM# 260400
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Shwachman-Diamond syndrome, MIM# 260400
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyserythropoietic anemia, congenital, type II , MIM#224100
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency, common variable, 15, MIM# 620670
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
- Immunodeficiency, common variable, 15, MIM# 620670
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Expert list
Phenotypes
- Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
- Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
- Immunodeficiency, common variable, 15, MIM# 620670
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Literature
Phenotypes
- Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Angioedema, hereditary, 1 and 2, MIM# 106100
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review
Phenotypes
- Sphingosine Phosphate Lyase Insufficiency Syndrome
- RENI syndrome (MIM#617575)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Predisposition to haematological malignancies
- Myeloproliferation and multi-organ autoimmunity
- juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Predisposition to haematological malignancies
- Myeloproliferation and multi-organ autoimmunity
- juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Host response to EBV infection
- Lymphoproliferative syndrome, X-linked, 1 308240
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammation with episodic fever and immune dysregulation, MIM# 620795
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Trichohepatoenteric syndrome 2, MIM#614602
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Trichohepatoenteric syndrome 2, MIM# 614602
- Respiratory infections
- IUGR
- Facial dysmorphic features
- Wooly hair
- Early-onset intractable diarrhoea
- Liver cirrhosis
- Platelet abnormalities
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Glycogen storage disease Ib, MIM# 232220
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Glycogen storage disease Ib, MIM# 232220
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Agammaglobulinaemia 9, autosomal recessive, MIM# 619693
- Antibody deficiency
- early onset infections
- blistering dermatosis
- failure to thrive
- thrombocytopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Folate malabsorption, hereditary MIM# 229050
- Decreased Ig levels
- megaloblastic anaemia
- failure to thrive
- Immunodeficiency
- if untreated for prolonged periods results in intellectual disability
- oral mucositis
- hypoimmunoglobulinaemia
- recurrent infections
- seizures
- motor impairment
- leukopaenia
- thrombocytopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lysinuric protein intolerance, MIM# 222700
- Hyper-inflammatory response of macrophages
- Normal NK cell function
- Lysinuric protein intolerance
- Bleeding tendency
- Alverolar proteinosis
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related
- Enteropathy
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group P, MIM# 613951
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Schimke immunoosseous dysplasia, MIM# 242900
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Schimke immune-osseous dysplasia MIM# 242900
- T cell deficiency
- Short stature
- spondyloepiphyseal dysplasia
- renal dysfunction
- lymphocytopaenia
- nephropathy
- bacterial/viral/fungal infections
- may present as SCID
- bone marrow failure
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Specific granule deficiency 2, MIM# 617475
- Neutropaenia
- Neurodevelopmental abnormalities in some
- Myelodysplasia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 8 MIM#615085
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375
- Common variable immunodeficiency
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
3 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375
- Early-onset autoimmunity
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375
- Enteropathy
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hepatic veno-occlusive disease with immunodeficiency MIM#235550
- Hepatic veno-occlusive disease
- susceptibility to Pneumocystis jirovecii pneumonia
- cytomegalovirus
- thrombocytopaenia
- hepatosplenomegaly
- cerebrospinal leukodystrophy
- memory T/B cell deficiency
- low Ig levels
- absent tissue plasma cells
- absent lymph node germinal centers
- hypogammaglobulinaemia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Australian Genomics Health Alliance Immunology Flagship
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Netherton syndrome MIM# 256500
- Low switched and non-switched B cells
- High IgE and IgA
- Antibody variably decreased
- Congenital ichthyosis
- bamboo hair
- atopic diathesis
- increased bacterial infections
- failure to thrive
- food allergies
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Syndromic neutropenia with Shwachman-Diamond-like features
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 31C, autosomal dominant, MIM# 614162
- Predisposition to Mucocutaneous Candidiasis
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory disorder
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952
- STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyper-IgE recurrent infection syndrome , MIM#147060
- Mucocutaneous candidiasis
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
- Lymphoproliferation
- solid organ autoimmunity
- recurrent infections
- short stature
- eczema
- delayed puberty
- dental abnormalities
- autoimmune interstitial lung disease
- juvenile-onset arthritis
- primary hypothyroidism
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hyper-IgE recurrent infection syndrome MIM# 147060
- Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Disabling pansclerotic morphea of childhood MIM#620443
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Growth hormone insensitivity with immunodeficiency, MIM# 245590
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- hyper-IgE syndrome MONDO:0018037
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 10, MIM# 612783
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868
- CD4/CD8 lymphopaenia
- cardiac malformations
- reduced naïve T cells
- increased TEM and TEMRA cells
- poor T cell Proliferation
- Reduced memory B cells
- Reduced IgM, increased IgG, IgA, IgE
- impaired antibody responses
- intermittent neutropaenia
- bacterial/ viral/ fungal infections
- autoimmune cytopaenias
- mucocutaneous candidiasis
- cutaneous warts
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Very Early Onset Inflammatory Bowel Disease
- Bilateral Sensorineural Hearing Loss
- Immune Dysregulation
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Very Early Onset Inflammatory Bowel Disease
- Bilateral Sensorineural Hearing Loss
- Immune Dysregulation
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
-
Literature
Phenotypes
- immunodeficiency 82 with systemic inflammation MONDO:0030308
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Bare lymphocyte syndrome, type I MIM#604571
- Low CD8
- absent MHC I on lymphocytes
- vasculitis
- pyoderma gangrenosum
- skin lesions
- recurrent respiratory tract infections
- bronchiectasis
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- MHC class I deficiency 2, MIM# 620813
- Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571
- Low CD8
- absent MHC I on lymphocytes
- Vasculitis
- pyoderma gangrenosum
- recurrent bacterial/viral respiratory infections
- bronchiectasis
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Barth syndrome, MIM# 302060
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Barth syndrome, MIM# 302060
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammation with arthritis and vasculitis, MIM# 620880
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hereditary predisposition to infections, MONDO:0015979, TBK1-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- DiGeorge syndrome MIM# 188400
- Velocardiofacial syndrome MIM# 192430
- Decreased T cells
- Hypoparathyroidism
- Conotruncal cardiac malformation
- velopalatal insufficiency
- abnormal facies (cleft palate, prominent tubular nose etc)
- intellectual disability
- Immunodeficiency
- thymic hypoplasia or aplasia with resultant T‐cell dysfunction
- renal anomalies
- autoimmunity
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Ghosal hematodiaphyseal syndrome, MIM#231095
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
- Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Agammaglobulinaemia 8, autosomal dominant, MIM# 616941
- Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 1 MIM#259700
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Transcobalamin II deficiency MIM# 275350
- Decreased Ig levels
- Megaloblastic anaemia
- pancytopaenia
- if untreated (B12) for prolonged periods results in intellectual disability
- failure to thrive
- diarrhoea
- hypogammaglobulinaemia
- pallor
- hypotonia
- respiratory infection
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Transcobalamin II deficiency, MIM#275350
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, MIM# 613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immune dysregulation
- Lymphoma
- Immunodeficiency-75 (IMD75), MIM#619126
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Loeys-Dietz syndrome 1 MIM#609192
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Loeys-Dietz syndrome 2 MIM#610168
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert Review
Phenotypes
- Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
- Revesz syndrome, MIM# 268130
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Systemic lupus erythematosus 17, MIM# 301080
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome MONDO:0019751, TLR8-associated
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Epidermodysplasia verruciformis 2, MIM# 618231
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related
- HSV encephalitis
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- STING-associated vasculopathy, infantile-onset, MIM# 615934
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Inflammatory bowel disease
- Crohn's disease
- Autoinflammatory syndrome, familial, Behcet-like
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 7 MIM#612301
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Other
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 2, MIM# 240500
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Other
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 2, MIM# 240500
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Periodic fever, familial, MIM# 142680
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Immunodeficiency 109 with lymphoproliferation, MIM# 620282
- EBV lymphoproliferation
- B-cell lymphoma
- Chronic active EBV infection
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 109 with lymphoproliferation, MIM# 620282
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Osteopetrosis, autosomal recessive 2 MIM#259710
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
- Antibody deficiency
- Recurrent infections
- Facial dysmorphism
- Limb anomalies
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292
- lymphopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome, TRAF3-related, MONDO:0019751
- hypergammaglobulinemia
- lymphadenopathy
- splenomegaly, Sjögren’s syndrome
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- {Systemic lupus erythematosus, susceptibility to} 152700
- Aicardi-Goutieres syndrome 1, dominant and recessive 225750
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Expert list
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Inflammatory bowel disease
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Trichohepatoenteric syndrome 1, MIM#222470
- Colitis
- Pancolitis
- Inflammatory bowel disease-like phenotype
- Very Early Onset Inflammatory Bowel Disease
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Trichohepatoenteric syndrome 1, MIM# 222470
- Respiratory infections
- IUGR
- Facial dysmorphic features
- Wooly hair:Early-onset intractable diarrhoea
- Liver cirrhosis
- Platelet abnormalities
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Trichohepatoenteric syndrome 1, MIM# 222470
- Respiratory infections
- IUGR
- Facial dysmorphic features
- Wooly hair:Early-onset intractable diarrhoea
- Liver cirrhosis
- Platelet abnormalities
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, 243150
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome, 243150
- Very Early Onset Inflammatory Bowel Disease (VEOIBD)
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 35, MIM# 611521
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Other
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory disease, adult onset
- VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Fanconi anemia, complementation group T, MIM# 616435
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Tags
|
|
Green
Green List (high evidence)
|
|
3 reviews
2 green
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
Unknown
|
Sources
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Poikiloderma with neutropaenia, MIM# 604173
- MONDO:0011405
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Poikiloderma with neutropaenia, MIM# 604173
- MONDO:0011405
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Pseudo-TORCH syndrome 2, MIM# 617397
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Cohen syndrome, MIM# 216550
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Australian Genomics Health Alliance Immunology Flagship
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital, X-linked MIM# 300299
- Wiskott-Aldrich syndrome MIM# 301000
- Thrombocytopaenia, X-linked MIM# 313900
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
Unknown
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Expert Review Green
-
Victorian Clinical Genetics Services
Tags
|
|
Green
Green List (high evidence)
|
|
0 reviews
|
Unknown
|
Sources
-
Victorian Clinical Genetics Services
-
Expert Review Green
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Neutropaenia, severe congenital, X-linked, MIM# 300299
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
-
Victorian Clinical Genetics Services
Phenotypes
- Wiskott-Aldrich syndrome, MIM# 301000
- Thrombocytopenia, X-linked, MIM# 313900
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
- Neutropaenia
- Poor wound healing
- Severe stomatitis
- Neutrophil nuclei herniate
- Autoinflammatory periodic fever
- Thrombocytopaenia
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Wiskott-Aldrich syndrome 2 MIM# 614493
- Reduced T cells
- defective lymphocyte responses to anti-CD3
- high IgE
- Thrombocytopenia with or without small platelets
- recurrent bacterial and viral Infections
- eczema
- bloody diarrhoea
- gastrointestinal bleeding
- WAS protein absent
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Wiskott-Aldrich syndrome 2 MIM# 614493
- Reduced T cells
- defective lymphocyte responses to anti-CD3
- high IgE
- Thrombocytopenia with or without small platelets
- recurrent bacterial and viral Infections
- eczema
- bloody diarrhoea
- gastrointestinal bleeding
- WAS protein absent
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Wiskott-Aldrich syndrome 2, MIM# 614493
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- X-linked lymphoproliferative syndrome 2
- inflammatory bowel disease
- colitis
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Lymphoproliferative syndrome, X-linked, 2, MIM# 300635
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Lymphoproliferative syndrome, X-linked, 2 300635
- Host response to EBV
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 48, MIM# 269840
- Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
2 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069
- Facial dysmorphic features
- developmental delay
- macroglossia
- bacterial/opportunistic infections
- malabsorption
- cytopaenia
- malignancies
- multiradial configurations of chromosomes 1, 9, 16
- Hypogammaglobulinaemia or agammaglobulinaemia
- variable antibody deficiency
Tags
|
|
Green
Green List (high evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
Phenotypes
- Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282
- Mild facial dysmorphism
- Early onset eczema
- Recurrent bacterial skin infections, abscesses
- Recurrent respiratory infections, lung abscesses and pneumothoraces
- Hyperextensible joints, bone fractures, retention of primary teeth
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 91 and hyperinflammation, MIM# 619644
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Literature
Phenotypes
- Immunodeficiency 91 and hyperinflammation, MIM# 619644
Tags
|
|
Green
Green List (high evidence)
|
|
1 review
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Green
-
Expert list
-
Expert Review Green
-
Literature
Phenotypes
- immunodeficiency 91 and hyperinflammation MONDO:0030491
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Baraitser-Winter syndrome 1, MIM# 243310
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Inflammatory bowel disease, MONDO:0005265, ALPI-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Other
Phenotypes
- Hereditary angioedema-5 (HAE5), MIM#619361
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {Psoriasis 15, pustular, susceptibility to} 616106
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
-
Literature
Phenotypes
- Immunodeficiency 62, MIM#618459
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- common variable immunodeficiency
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review
Phenotypes
- Chronic granulomatous disease
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C4a deficiency MIM#614380
- susceptibility systemic lupus erythematosus
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- susceptibility to autoimmune disease
- C4B deficiency MIM#614379
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C8 deficiency, type I MIM#613790
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Inflammatory bowel disease-30, MIM#619079
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901
- isolated susceptibility to cutaneous α- and γ-HPVs
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- CD8 deficiency, familial, MIM# 608957
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 108 with autoinflammation , MIM# 260570
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Complement factor B deficiency, MIM# 615561
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 128, MIM# 620983
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Amber
-
Literature
-
Expert Review Amber
-
Literature
Phenotypes
- common variable immunodeficiency MONDO:0015517
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Phenotypes
- WHIM syndrome, MIM# 193670
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Genetic hemophagocytic lymphohistiocytosis MONDO:0015541
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Phenotypes
- Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Combined immunodeficiency, MONDO:0015131, ERBIN-related
- Recurrent respiratory infections
- Susceptibility to S.aureus
- Eczema
- Hyperextensible joints
- Scoliosis
- Arterial dilatation in some
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 20, MIM# 615707
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 20, MIM# 615707
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency due to ficolin 3 deficiency, MIM# 613860
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Autoinflammatory syndrome, MONDO:0019751, FGL2-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- ?Immunodeficiency 125 MIM#620926
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 125, MIM# 620926
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- thymic dysplasia MONDO:0004195
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immune dysregulation
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Mitochondrial DNA depletion syndrome 21, MIM# 621071
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Phenotypes
- Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- inflammatory bowel disease, MONDO:0005265, HSPA1L-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Combined immunodeficiency
- recurrent bacterial and viral infections
- neutropaenia
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 119, MIM# 620825
- Combined immunodeficiency
- recurrent bacterial and viral infections
- neutropaenia
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- inherited susceptibility to mycobacterial diseases MONDO:0019146
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
-
Literature
Phenotypes
- Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Amber
-
Literature
Phenotypes
- Epstein-Barr virus infection MONDO:0005111 , IL27RA-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Recurrent pyogenic infections, cold abscesses
- High circulating IL-6 levels
- High IgE
- IgE recurrent infection syndrome, MIM#618944
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Primary immunodeficiency, MONDO:0003778
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Amber
-
Expert list
Phenotypes
- encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Amber
-
Expert list
Phenotypes
- immunodeficiency 65, susceptibility to viral infections MONDO:0032848
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 65, susceptibility to viral infections 618648
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Syndromic disease, MONDO:0002254, ITGAV-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Susceptibility to mycobacteria and viruses
- Viral infections
- Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Anaemia, congenital dyserythropoietic, type IIIA 105600
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Wiedemann-Steiner syndrome MIM#605130
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Hereditary angioedema-6 (HAE6), MIM#619363
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 81, MIM# 619374
- Severe combined immunodeficiency
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
- Combined Immune deficiency
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
-
Literature
Phenotypes
- Chronic mucocutaneous candidiasis
- Connective tissue disorders
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Unknown
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313
- Susceptibility to CMV
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 54 MIM# 609981
- Decreased NK cell number and function
- Viral infections (EBV, HSV, VZV)
- Short stature
- B cell lymphoma
- Adrenal failure
- Failure to thrive
- Microcephaly
- Increased chromosomal breakage
- Hyperpigmentation
- Lymphadenopathy
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Other
Phenotypes
- bone marrow failure syndrome MONDO:0000159, MDM4-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Neutropaenia with combined immune deficiency
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 5, MIM# 613495
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 5, MIM# 613495
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immune deficiency disease, MONDO:0003778, NFAT5-related
- Recurrent infections
- Autoimmune enterocolopathy
- EBV susceptibility
- HLH
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Inborn error of immunity, MONDO:0003778, NFATC1-related
- Combined Immune deficiency
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
-
Literature
Phenotypes
- Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Autoinflammation with infantile enterocolitis, MIM# 616050
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 1, MIM#224230
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Inflammatory bowel disease, MONDO:0005265, NOX1-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Systemic lupus erythematosus, MONDO:0007915, P2RY8-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
-
Expert Review Green
-
Victorian Clinical Genetics Services
Phenotypes
- Neurodevelopmental disorder MONDO:0700092, PAX5-related
- Hypogammaglobulinaemia
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 97 with autoinflammation, MIM# 619802
- Humoral deficiency
- Immune dysregulation
- HLH
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert Review
-
Expert Review Amber
-
Literature
Phenotypes
- Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Mismatch repair cancer syndrome, MIM# 276300
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Autoinflammatory syndrome, MONDO:0019751, PMVK-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145
- Low CD4 T cells
- Low B cells, normal maturation
- recurrent respiratory tract infections, skin infections, warts and molluscum
- short stature
- intellectual disability
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 122, MIM# 620869
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Amber
-
Expert list
Phenotypes
- varicella zoster infection MONDO:0005608
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Amber
-
Expert list
Phenotypes
- varicella zoster infection MONDO:0005608
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review
-
Literature
Phenotypes
- Agammaglobulinaemia, MONDO:0015977, POU2AF1-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Other
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
Other
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- bone marrow failure syndrome MONDO#0000159, PTPN13-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Lupus
- arthritis
- common variable immunodeficiency
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Common variable immunodeficiency
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 64 MIM#618534
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Relapsing HLH
- Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 92, MIM# 619652
- Combined immunodeficiency
- T cells: normal, decreased memory CD4, poor proliferation
- B cells: low, mostly naive, few switched memory B cells, impaired proliferation
- Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms
- Defective innate immunity
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Fanconi anemia, complementation group W, MIM# 617784
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Genetic HLH, MONDO:0015541, RHOG-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
-
Literature
Phenotypes
- Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related
- Recurrent HSV encephalitis
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
-
Expert Review Amber
-
Literature
Phenotypes
- Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review
Phenotypes
- Immunodeficiency 115 with autoinflammation, MIM# 620632
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 115 with autoinflammation, MIM# 620632
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Diamond-Blackfan anemia 18, MIM# 618310
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Diamond-Blackfan anemia MONDO:0015253
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
-
Expert Review Amber
-
Literature
Phenotypes
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 13, MIM# 615909
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- ulcerative colitis, MONDO:0005101
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 61, MIM# 300310
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Combined immunodeficiency, SLC19A1-related MONDO:0015131
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review
Phenotypes
- Diarrhoea 8, secretory sodium, congenital 616868
- Very Early Onset Inflammatory Bowel Disease
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Literature
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 86, MIM#619549
- Susceptibility to mycobacteria and Salmonella
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Neutropenia, MONDO:0001475, SRP19-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Neutropenia, MONDO:0001475, SRP19-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Phenotypes
- Bone marrow failure syndrome 1, MIM# 614675
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Schwachman-Diamond syndrome MONDO:0009833, SRPA-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Schwachman-Diamond syndrome MONDO:0009833, SRPA-related
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Bare lymphocyte syndrome, type I, MIM# 604571
- MHC class I deficiency 3, MIM# 620814
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Immunodeficiency 88, MIM# 619630
- Susceptibility to mycobacterial disease
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert Review
Phenotypes
- severe congenital neutropenia, MONDO:0018542
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989
- {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 46, MIM# 616740
- T cells: normal number, poor proliferation
- B cells: normal number, low memory B cells
- recurrent infections, neutorpaenia
- thrombocytopaenia
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
- Revesz syndrome, MIM# 268130
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 4, MIM# 613494
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 4, MIM# 613494
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Bone marrow failure syndrome 5, MIM# 618165
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 green
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Expert list
Phenotypes
- Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 8, MIM# 615527
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 8, MIM# 615527
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
-
Expert Review Amber
-
Literature
Phenotypes
- Dyskeratosis congenita, digenic, MIM#620040
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Wiskott-Aldrich syndrome 2, MIM# 614493
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
1 review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Victorian Clinical Genetics Services
Phenotypes
- Fanconi anemia, complementation group U, MIM# 617247
Tags
|
|
Amber
Amber List (moderate evidence)
|
|
2 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Amber
-
Other
Phenotypes
- Autoimmune disease, multisystem, infantile-onset, 2
- inflammatory colitis
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- infectious meningitis MONDO:0004796
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Autophagy-associated immune dysregulation and hyperplasia
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Immunodeficiency 89 and autoimmunity, MIM# 619632
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hereditary susceptibility to infection, MONDO:0015979, CASP4-related
- Susceptibility to meliodiosis
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- C3 glomerulopathy
- C3G
- Immune complex MPGN
- IC-MPGN
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
1 green
1 red
|
Unknown
|
Sources
-
Expert Review Green
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Nephropathy due to CFHR5 deficiency, MIM# 614809
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Candidiasis, familial, 4, autosomal recessive MIM#613108
- {Aspergillosis, susceptibility to} , MIM#614079
- Mucocutaneous candidiasis
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Phenotypes
- Epidermolysis bullosa dystrophica, AR, MIM# 226600
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated
- late onset combined immunodeficiency
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- severe congenital neutropenia MONDO:0018542
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Autoinflammatory disorder MONDO:0019751, FBXW11-related
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Phenotypes
- Protoporphyria, erythropoietic, 1, MIM# 177000
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Phenotypes
- Kindler syndrome, MIM# 173650
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- inflammatory bowel disease, MONDO:0005265, FMNL2-related
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Norwalk virus infection, resistance to
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- combined immunodeficiency MONDO:0015131
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- herpes simplex encephalitis MONDO:0012521
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Hereditary angioedema-8 (HAE8), MIM#619367
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Susceptibility to mycobacteria and Salmonella
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Candidiasis, familial, 6, autosomal dominant, MIM# 613956
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Red
-
Expert list
Phenotypes
- {?Hepatitis, fulminant viral, susceptibility to} 618549
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- {?Hepatitis, fulminant viral, susceptibility to} 618549
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Chronic recurrent multifocal osteomyelitis 3, MIM# 259680
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency, common variable, 11, MIM# 615767
Tags
|
|
Red
Red List (low evidence)
|
|
3 reviews
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert Review
Phenotypes
- Immunodeficiency, common variable, 11, MIM# 615767
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Immunodeficiency, common variable, 11 MIM#615767
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Susceptibility to bacterial infections
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Immune dysregulation, MONDO:0957790, IRAK2-related
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Immune dysregulation, MONDO:0957790, IRAK2-related
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Aicardi-Goutieres syndrome MONDO:0018866
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Inborn error of immunity, MONDO:0003778, LY96-related
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Inborn error of immunity, MONDO:0003778, LY96-related
- Colitis
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Fanconi anemia, complementation group V, MIM# 617243
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related
- Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- MASP2 deficiency, MIM# 613791
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Mismatch repair cancer syndrome 3 MIM#619097
- constitutional mismatch repair deficiency
- immunodeficiency
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Hereditary angioedema-7 (HAE7), MIM#619366
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
Unknown
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Recurrent respiratory papillomatosis
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
-
Victorian Clinical Genetics Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert list
-
Expert Review Red
-
Expert list
Phenotypes
- inborn error of immunity MONDO:0003778
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Multisystem inflammatory syndrome in children and adults MONDO:0035375
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- systemic lupus erythematosis
- vasculitis
- nephritis
Tags
|
|
Red
Red List (low evidence)
|
|
2 reviews
2 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Congenital disorder of glycosylation, type Ia, MIM# 212065
- Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- MONDO:0002254 syndromic disease
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Combined immunodeficiency
- Lymphopaenia
- Lack of TRECS, absent proliferation in response to antigens
- Hypoglobulinaemia
- Recurrent infections, disseminated BCG infections
- Autoimmunity
- Facial dysmorphism
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Tags
|
|
Red
Red List (low evidence)
|
|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert list
-
Expert Review Red
-
Expert list
Phenotypes
- Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Tags
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Red
Red List (low evidence)
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1 review
1 red
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Other
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Sources
-
Expert Review Red
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Literature
Phenotypes
- Inborn error of immunity, MONDO:0003778, PSMA5-related
- PRAAS/CANDLE
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
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Expert list
Phenotypes
- Proteasome-associated autoinflammatory syndrome 4, MIM# 619183
- CANDLE syndrome
- Chronic atypical neutrophilic dermatitis with lipodystrophy
Tags
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Red
Red List (low evidence)
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2 reviews
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
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Victorian Clinical Genetics Services
Phenotypes
Tags
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Red
Red List (low evidence)
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1 review
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
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Expert list
Phenotypes
- Fanconi anemia complementation group R MONDO:0014986
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
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Literature
Phenotypes
- Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
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Literature
Phenotypes
- Immunodeficiency
- short stature
Tags
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Red
Red List (low evidence)
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1 review
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
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Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 16, MIM# 617408
Tags
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Red
Red List (low evidence)
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1 review
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
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Expert list
Phenotypes
- Diamond-Blackfan anemia 19, MIM# 618312
Tags
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Red
Red List (low evidence)
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1 review
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
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Expert list
Phenotypes
- Diamond-Blackfan anemia 20, MIM# 618313
Tags
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Red
Red List (low evidence)
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1 review
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 17, MIM# 617409
Tags
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Red
Red List (low evidence)
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1 review
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
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Victorian Clinical Genetics Services
Phenotypes
- CHARGE syndrome, MIM# 214800
Tags
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Red
Red List (low evidence)
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1 review
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
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Literature
Phenotypes
- autoimmune disease, MONDO:0007179, SIRT1-related
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Expert Review
Phenotypes
- Ziegler-Huang syndrome, MIM# 620501
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Generalized verrucosis
- abnormal T cell activation
Tags
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Red
Red List (low evidence)
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2 reviews
1 green
1 red
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Green
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Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Staphylococcal disease during childhood
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Literature
Phenotypes
- Inborn error of immunity, MONDO:0003778, TKFC-related
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Inflammatory bowel disease MONDO:0005265
Tags
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Red
Red List (low evidence)
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1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Immunodeficiency 16, MIM# 615593
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Immunodeficiency 16, MIM# 615593
Tags
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Red
Red List (low evidence)
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|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent infections, poor antibody responses, decreased immunoglobulins
Tags
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Red
Red List (low evidence)
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|
2 reviews
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Recurrent infections, poor antibody responses, decreased immunoglobulins
Tags
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Red
Red List (low evidence)
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2 reviews
2 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Literature
-
Expert Review Red
-
Literature
Phenotypes
- Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Literature
Phenotypes
- Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
-
Expert Review Red
-
Expert list
-
Literature
Phenotypes
- Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
-
Expert list
Phenotypes
- Immunodeficiency 85 and autoimmunity, MIM# 619510
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- Hoyeraal-Hreidarsson syndrome
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Melbourne Genomics Health Alliance Immunology Flagship
-
Victorian Clinical Genetics Services
Phenotypes
- {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849
Tags
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Red
Red List (low evidence)
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1 review
1 red
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
-
Expert Review Red
-
Expert list
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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
-
Expert Review Red
-
Victorian Clinical Genetics Services
Phenotypes
- Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Expert list
Phenotypes
- ?Immunodeficiency 13 MIM#615518
Tags
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Red
Red List (low evidence)
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|
1 review
1 red
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
-
Expert Review Red
-
Literature
Phenotypes
- Common variable immnodeficiency
Tags
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No list
No list
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1 review
1 green
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
Phenotypes
- Inflammatory bowel disease
Tags
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