Level 2: Viral research
Version 1.141
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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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
- Neutropenia, severe congenital 2
- Congenital neutropenia
- Severe congenital 2, autosomal dominant, 613107
- Congenital defects of phagocyte number or function
- Neutropenia, nonimmune chronic idiopathic, of adults, 607847
- Severe congenital neutropenia
- B/T lymphopenia
- Chronic non-immune neutropenia of adults
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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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, nonimmune chronic idiopathic, of adults, 607847
- Severe congenital 2, autosomal dominant, 613107
- Neutropenia, severe congenital 2
- Congenital neutropenia
- Severe congenital neutropenia
- Chronic non-immune neutropenia of adults
- B/T lymphopenia
- 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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Severe congenital neutropenic
- Neutropenia, Severe Congenital, 2 Autosomal Dominant
- Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
- Neutropenia, severe congenital 2, autosomal dominant, 613107
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Version 3.27
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 613107 Neutropenia, severe congenital 2
- Severe congenital neutropenic
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Neutropenia, Severe Congenital, 2 Autosomal Dominant
- Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
- Neutropenia, severe congenital 2, autosomal dominant, 613107
- 607847 ?Neutropenia, nonimmune chronic idiopathic, of adults
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
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Version 1.182
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Neutropenia, severe congenital 2, autosomal dominant, 613107
- ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847
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