Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Curated sources
- Expert Review Green
Phenotypes
- Class: miscellaneous
- MDS, AML
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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
- Agranulocytosis v1.3
- 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
- Agranulocytosis v1.3
Phenotypes
- Congenital neutropenia
- Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia
- Neutropenia, severe congenital 3, autosomal recessive, 610738
- Congenital defects of phagocyte number or function
- Severe congenital neutropenia
- Neutropenia, severe congenital 3
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Version 4.201
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
- ESID Registry 20171117
- GRID V2.0
- Congenital neutropaenia v1.22
- Agranulocytosis v1.3
Phenotypes
- Neutropenia, severe congenital 3, autosomal recessive, 610738
- Severe congenital neutropenia
- Neutropenia, severe congenital 3
- Congenital neutropenia
- Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia
- 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
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Severe congenital neutropenic
- Neutropenia, Severe Congenital, 3 Autosomal Dominant
- Neutropenia, severe congenital 3, autosomal recessive, 610738
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: miscellaneous
- MDS, AML
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Version 3.32
Latest signed off version: v3.0
(22 Mar 2023)
|
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
- Neutropenia, severe congenital 3, autosomal recessive, 610738
- Severe congenital neutropenic
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- 610738 Neutropenia, severe congenital 3, autosomal recessive
- 610738 Neutropenia, severe congenital 3
- Neutropenia, Severe Congenital, 3 Autosomal Dominant
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Version 3.155
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
- PAGE DD-Gene2Phenotype
Phenotypes
- NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.193
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Literature
- Literature
Phenotypes
- Neutropenia, severe congenital 3, autosomal recessive, 610738
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Amber
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
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Version 1.184
|
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 3, autosomal recessive, 610738
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