Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Curated sources
- Expert Review Green
Phenotypes
- Class: familial predisp to leukaemia (typ AD)
- Familial AML with mutated GATA2, GATA2-spectrum disorders
- MDS, AML, CMML
- Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies
- No other known cancer risks
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Level 2: Viral research
Version 1.142
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema
- Congenital neutropenia
- Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
- Immunodeficiency 21,614172
- Congenital defects of phagocyte number or function
- Monocytopenia and mycobacterial infection (MonoMAC)
- Monocytopenia with susceptibility to infections
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- {Leukemia, acute myeloid, susceptibility to}, OMIM:601626
- {Myelodysplastic syndrome, susceptibility to}, OMIM:614286
- Emberger syndrome, OMIM:614038
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- North West GLH
- London North GLH
- Expert Review Green
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Immunodeficiency 21,614172
- Monocytopenia and mycobacterial infection (MonoMAC)
- Congenital neutropenia
- Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
- Monocytopenia with susceptibility to infections
- Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema
- Congenital defects of phagocyte number or function
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Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
- Familial MDS (Myelodysplastic syndromes)
- Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
- Emberger syndrome, 614038 (includes pancytopenia)
- {Myelodysplastic syndrome, susceptibility to}, 614286
- {Leukemia, acute myeloid, susceptibility to}, 601626
- Primary Lymphedema with Myelodysplasia
- Immunodeficiency 21
- Leukemia, Acute Myeloid
- Lymphedema, Primary, With Myelodysplasia
- Myelodysplastic Syndrome
- Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
- Congenital dyserythropoietic anemia (CDA)
Tags
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: familial predisp to leukaemia (typ AD)
- Familial AML with mutated GATA2, GATA2-spectrum disorders
- MDS, AML, CMML
- Monocytopenia and mycobacterial infection syndrome, Emberger syndrome, immune deficiencies
- No other known cancer risks
|
Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Congenital dyserythropoietic anemia (CDA)
- Myelodysplastic Syndrome
- Familial MDS (Myelodysplastic syndromes)
- Leukemia, Acute Myeloid
- {Leukemia, acute myeloid, susceptibility to}, 601626
- Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
- {Myelodysplastic syndrome, susceptibility to}, 614286
- Primary Lymphedema with Myelodysplasia
- Lymphedema, Primary, With Myelodysplasia
- Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
- 614038 Emberger syndrome
- Immunodeficiency 21
- Emberger syndrome, 614038 (includes pancytopenia)
- Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Immunodeficiency 21, 614172
- Emberger syndrome, 614038
- {Myelodysplastic syndrome, susceptibility to}, 614286
- {Leukemia, acute
- myeloid, susceptibility to}, 601626
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Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.11
Latest signed off version: v3.0
(30 Nov 2022)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- London South GLH
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Emberger Syndrome 614038
- {Myelodysplastic syndrome, susceptibility to} 614286
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Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Immunodeficiency 21, 614172
- Emberger syndrome, 614038
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