Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Insomnia, fatal familial 600072
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
Phenotypes
- Dementia
- Clinical syndrome Prion disease
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Creutzfeldt-Jakob disease
- Autosomal Dominant Ataxia
- Gerstmann-Straussler disease
- Huntington disease-like 1
- Insomnia, fatal familial
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Cerebral amyloid angiopathy, PRNP-related, OMIM:137440
- Gerstmann-Straussler disease, OMIM:137440
- Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Autosomal Dominant Ataxia
- Creutzfeldt-Jakob disease
- Gerstmann-Straussler disease
- Huntington disease-like 1
- Insomnia, fatal familial
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Cerebral amyloid angiopathy, PRNP-related 137440
- Gerstmann-Straussler disease 137440
- Huntington disease-like 1 603218
- Creutzfeldt-Jakob disease 123400
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Cerebral amyloid angiopathy, PRNP-related, 137440
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Cerebral amyloid angiopathy, PRNP-related, 137440
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Gerstmann-Straussler disease, OMIM: 137440
- Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Creutzfeldt-Jakob disease, OMIM:123400
- Huntington disease-like 1, OMIM:603218
- Dementia
- Gerstmann-Straussler disease, OMIM:137440
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Expert Review
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Autosomal Dominant Ataxia
- Multiple allelic disorders reported
- Huntington disease-like 1
- Gerstmann-Straussler disease
- Creutzfeldt-Jakob disease
- Insomnia, fatal familial
|
Version 3.19
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
Phenotypes
- Cerebral amyloid angiopathy, PRNP-related, OMIM:137440
- Huntington disease-like 1, OMIM:603218
- Gerstmann-Straussler disease, OMIM:137440
- Creutzfeldt-Jakob disease, OMIM:123400
|
Version 4.10
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Expert Review
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- PanelApp
- London North GLH
Phenotypes
- Cerebral amyloid angiopathy, PRNP-related, OMIM:137440
- Huntington disease-like 1, OMIM:603218
- Gerstmann-Straussler disease, OMIM:137440
- Creutzfeldt-Jakob disease, OMIM:123400
Tags
- Q1_24_demote_red
- Q1_24_expert_review
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Creutzfeldt-Jakob disease, 123400
- Huntington disease-like 1, 603218
- Insomnia, fatal familial, 600072
- Prion disease with protracted course, 606688
- Cerebral amyloid angiopathy, PRNP-related, 137440
- Gerstmann-Straussler disease, 137440
|