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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
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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
- Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
- Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic
- Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
- Literature
- Expert Review
Phenotypes
- Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
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|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
|
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875
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