Version 4.58
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
- pontocerebellar hypoplasia type 9, 615809
- Pontocerebellar hypoplasia 9 (#615809)
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Pontocerebellar hypoplasia 9 (#615809)
- Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.308
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Expert list
Phenotypes
- Pontocerebellar hypolplasia (biallelic)
- Hereditary Spastic Paraplegia?
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Literature
- Other
- Radboud University Medical Center, Nijmegen
Phenotypes
- pontocerebellar hypoplasia type 9, 615809
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Version 4.39
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Yorkshire and North East GLH
- Expert Review Amber
- NHS GMS
- London North GLH
- Expert list
Phenotypes
- ?Spastic paraplegia 63, 615686, AR
- Pontocerebellar hypoplasia, type 9, 615809, AR
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Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Yorkshire and North East GLH
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- ?Spastic paraplegia 63, 615686, AR
- Hereditary Spastic Paraplegia?
- Pontocerebellar hypoplasia, type 9, 615809, AR
- Pontocerebellar hypolplasia (biallelic)
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
- Hereditary Spastic Paraplegia?
- Pontocerebellar hypoplasia 9 (#615809)
- Pontocerebellar hypolplasia (biallelic)
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Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PONTOCEREBELLAR HYPOPLASIA
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PONTOCEREBELLAR HYPOPLASIA
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.181
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
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Pontocerebellar hypoplasia, type 9 615809
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- PONTOCEREBELLAR HYPOPLASIA
- Pontocerebellar hypoplasia, type 9, 615809
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Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
Phenotypes
- Pontocerebellar hyoplasia 9 OMIM:615809
- pontocerebellar hypoplasia type 9 MONDO:0014351
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
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Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pontocerebellar hypoplasia, type 9, 615809
- ?Spastic paraplegia 63, 615686
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