Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- GOSH PID v.8.0
- 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
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial 3, 608898
- Diseases of Immune Dysregulation
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- HPLH3
- HLH3
- FHL3
- Fever, HSM, HLH, cytopenias,
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Version 3.31
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
- GOSH PID v.8.0
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial 3, 608898
- FHL3
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- HPLH3
- HLH3
- Fever, HSM, HLH, cytopenias,
- Diseases of Immune Dysregulation
Tags
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Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert list
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
- Expert list
Phenotypes
- Increased risk of lymphoma
- predisposition to childhood anaplastic large cell lymphoma
- predisposition to leukemia
- increased susceptibility to malignancy
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert Review
- Literature
Phenotypes
- Pancytopenia
- ?Hydrops fetalis
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial, 3, 608898
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