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
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
- Congenital neutropaenia v1.22
Phenotypes
- VPS45 deficiency (SCN5)
- Neutropenia, severe congenital 5
- Congenital defects of phagocyte number or function
- Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
- Neutropenia, severe congenital, 5, autosomal recessive, 615285
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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
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
- Congenital neutropaenia v1.22
Phenotypes
- Neutropenia, severe congenital, 5, autosomal recessive, 615285
- Neutropenia, severe congenital 5
- VPS45 deficiency (SCN5)
- Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
- 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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neutropenia, severe congenital, 5, autosomal recessive, 615285
- Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
- VPS45 deficiency
- Severe congenital neutropenia
Tags
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Version 3.27
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
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 615285 Neutropenia, severe congenital, 5
- VPS45 deficiency
- Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome
- Neutropenia, severe congenital, 5, autosomal recessive, 615285
- 615285 Neutropenia, severe congenital, 5, autosomal recessive
- Severe congenital neutropenia
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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
- Neutropenia, severe congenital, 5, autosomal recessive, 615285
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