Version 4.6
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
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
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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
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- autosomal dominant spinocerebellar ataxia
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- Expert Review
Phenotypes
- autosomal dominant spinocerebellar ataxia
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Version 0.36
|
review
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Not set
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Sources
|
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
Phenotypes
- ?Spinocerebellar ataxia 40, OMIM:616053
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Hydrocephalus, congenital, 1, OMIM:236600
- Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Amber
- Literature
- Literature
Phenotypes
- ?Spinocerebellar ataxia 40 616053 AD
- Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- ?Spinocerebellar ataxia 40 616053 AD
- Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
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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 Red
- Hereditary ataxia v1.148
Phenotypes
- Spinocerebellar ataxia 40, 616053
- autosomal dominant spinocerebellar ataxia
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Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hydrocephalus, congenital, 1, 236600
- ?Spinocerebellar ataxia 40
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