Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- Other
- Radboud University Medical Center, Nijmegen
Phenotypes
- {Hemorrhage, intracerebral, susceptibility to}, 614519
- {Hemorrhage, intracerebral, susceptibility to}
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
Unknown
|
Sources
|
Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Literature
Phenotypes
- porencephaly
- infantile heiparesis, intracerebral haemorrhages
- Porencephaly 2 614483
- {Hemorrhage, intracerebral, susceptibility to} 614519
|
Version 3.24
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
Phenotypes
- Brain small vessel disease 2, OMIM:614483
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Brain small vessel disease 2, OMIM:614483
- {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
Tags
- Q4_23_promote_green
- Q4_23_NHS_review
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
Unknown
|
Sources
- NHS GMS
- London South GLH
- Expert Review Red
- Expert Review
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert Review
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Brain small vessel disease 2, OMIM:614483
- {Hemorrhage, intracerebral, susceptibility to}, OMIM:614519
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Expert
Phenotypes
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Porencephaly 2, 614483{Hemorrhage, intracerebral, susceptibility to}, 614519
- PORENCEPHALY 2
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Brain small vessel disease 2, 614483
|