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
- NHS GMS
- Expert Review Green
Phenotypes
- Pontocerebellar hypoplasia 10 OMIM:615803
- Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
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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 10 OMIM:615803
- Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Other
- Literature
Phenotypes
- Pontocerebellar hypoplasia 10 OMIM:615803
- Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
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Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
Phenotypes
- Pontocerebellar hypoplasia 10, 615803
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Pontocerebellar hypoplasia, type 10, OMIM:615803
- Pontocerebellar hypoplasia type 10, MONDO:0014349
Tags
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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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Pontocerebellar hypoplasia 10 OMIM:615803
- Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Pontocerebellar hypoplasia 10 OMIM:615803
- Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
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Version 4.30
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
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
Phenotypes
- Pontocerebellar hypoplasia type 10 OMIM:615803
Tags
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pontocerebellar hypoplasia 10 OMIM:615803
- Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
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