Level 2: Viral research
Version 1.142
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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
- HLH4
- Hemophagocytic lymphohistiocytosis, familial 4, 603552
- Diseases of Immune Dysregulation
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- FHL4
- HPLH4
- Fever, HSM, cHLH, cytopenias,
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Version 4.202
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 4, 603552
- FHL4
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- HPLH4
- HLH4
- Fever, HSM, cHLH, cytopenias,
- Diseases of Immune Dysregulation
Tags
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
- Expert list
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial, 4 603552
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Version 3.10
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 Red
- North West GLH
- NHS GMS
- Wessex and West Midlands GLH
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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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Not set
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Sources
- Victorian Clinical Genetics Services
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Version 1.184
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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, 4, 603552
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