Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.42
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial, 5 613101
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.74
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- Early Onset Inflammatory Bowel Disease
- Inflammatory Bowel Disease (Very Early Onset)
- Hemophagocytic lymphohistiocytosis, familial, 5 613101
|
Level 2: Viral research
Version 1.141
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- IUIS Classification December 2030
- 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 5, 613101
- Diseases of Immune Dysregulation
- Fever, HSM, cHLH, cytopenias, enteropathy
- FHL5
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial, 5, OMIM:613101
|
Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.176
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Familial hemophagocytic lymphohistiocytosis type 5
|
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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 5, 613101
- FHL5
- Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
- Fever, HSM, cHLH, cytopenias, enteropathy
- Diseases of Immune Dysregulation
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
- Expert list
Phenotypes
- risk of lymphoma
- predisposition to acute lymphoblastic leukemia (ALL)
- Hemophagocytic lymphohistiocytosis, familial, 5 613101
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 613101 Hemophagocytic lymphohistiocytosis, familial, 5
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hemophagocytic lymphohistiocytosis, familial, 5, 613101
|