Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Hereditary Periodic Fever Syndromes
- Neutropenia, cyclic, 162800
- Recurring fever and malaise
Tags
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Curated sources
- Expert Review Green
Phenotypes
- Class: miscellaneous
- Severe congenital neutropenia
- MDS, AML
|
Level 2: Viral research
Version 1.142
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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
- Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
- Neutropenia, cyclic, 162800
- Cyclic neutropenia
- Congenital defects of phagocyte number or function
- Neutropenia, severe congenital 1
- Neutropenia, severe congenital 1, autosomal dominant, 202700
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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, cyclic, 162800
- Neutropenia, severe congenital 1, autosomal dominant, 202700
- Neutropenia, severe congenital 1
- Congenital neutropenia
- Cyclic neutropenia
- Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
- Congenital defects of phagocyte number or function
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Neutropenia, cyclic 162800
- Neutropenia, severe congenital 1, autosomal dominant 202700
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: miscellaneous
- Severe congenital neutropenia
- MDS, AML
|
Version 3.33
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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 1, autosomal dominant, 202700
- Neutropenia, cyclic, 162800
- Neutropenia, severe congenital 1, autosomal dominant 202700
- 202700 Neutropenia, severe congenital 1
- 202700 Neutropenia, severe congenital 1, autosomal dominant
- Neutropenia, cyclic 162800
- 162800 Cyclic neutropenia
- 162800 Neutropenia, cyclic
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neutropenia, severe congenital 1, autosomal dominant, 202700
- Neutropenia, cyclic, 162800
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
|