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
- NHS GMS
- GRID V2.0
- Congenital neutropaenia v1.22
- 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
- Congenital neutropaenia v1.22
Phenotypes
- Congenital neutropenia
- Congenital defects of phagocyte number or function
- Neutropenia, severe congenital 7
- N/A
- Neutropenia, severe congenital, 7, autosomal recessive, 617014
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Version 4.201
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- 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
- Congenital neutropaenia v1.22
Phenotypes
- Neutropenia, severe congenital, 7, autosomal recessive, 617014
- Neutropenia, severe congenital 7
- Congenital neutropenia
- N/A
- 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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Expert list
Phenotypes
- Severe congenital neutropenia
- Neutropenia, severe congenital, 7, autosomal recessive 617014
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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)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Acute myeloid leukaemia
- Hereditary neutrophilia
- Neutropenia, severe congenital, 7, autosomal recessive, OMIM:617014
Tags
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Version 3.32
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
- Neutropenia, severe congenital, 7, autosomal recessive, 617014
- 617014 Neutropenia, severe congenital, 7
- 617014 Neutropenia, severe congenital, 7, autosomal recessive
- Severe congenital neutropenia
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neutropenia, severe congenital, 7, autosomal recessive, 617014
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Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
|