Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Dursun syndrome OMIM:612541
- Neutropenia, severe congenital 4, autosomal recessive OMIM:612541
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert list
|
Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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
- Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs
- Congenital neutropenia
- Dursun syndrome, 612541
- Severe Congenital Neutropenia
- Neutropenia, severe congenital 4, autosomal recessive, 612541
- Congenital defects of phagocyte number or function
- Neutropenia, severe congenital 4
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Dursun syndrome OMIM:612541
- Neutropenia, severe congenital 4, autosomal recessive OMIM:612541
- autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930
|
Version 4.202
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 4, autosomal recessive, 612541
- Dursun syndrome, 612541
- Severe Congenital Neutropenia
- Neutropenia, severe congenital 4
- Congenital neutropenia
- Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs
- Congenital defects of phagocyte number or function
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Severe congenital neutropenic
- Neutropenia, Severe Congenital, 4 Autosomal Dominant
- Neutropenia, severe congenital 4, autosomal recessive, 612541
- Dursun syndrome, 612541
- Severe Congenital Neutropenia
|
Version 3.34
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
- Dursun syndrome, 612541
- Severe congenital neutropenic
- 612541 Neutropenia, severe congenital 4, autosomal recessive
- Inherited Bone Marrow Failure Syndromes - Neutropenia
- Neutropenia, severe congenital 4, autosomal recessive, 612541
- Neutropenia, Severe Congenital, 4 Autosomal Dominant
- 612541 Neutropenia, severe congenital 4
- Severe Congenital Neutropenia
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Dursun syndrome 612541
- Neutropenia, severe congenital 4, autosomal recessive 612541
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Dursun syndrome
- Neutropenia, severe congenital 4, autosomal recessive
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.550
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dursun syndrome, 612541
- Neutropenia, severe congenital 4, autosomal recessive, 612541
|