Level 2: Viral research
Version 1.142
|
review
|
Unknown
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Sources
- Expert list
- OMIM
- Expert Review Red
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- ?Dystonia 32, OMIM:619637
- dystonia 32, MONDO:0030486
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Leukodystrophy, hypomyelinating, 12, OMIM:616683
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.180
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Leukodystrophy, hypomyelinating, 12, OMIM:616683
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review
- Expert Review Green
- Expert Review Green
- Expert Review
- Literature
Phenotypes
- Leukodystrophy, hypomyelinating, 12 (MIM 616683)
- Leukodystrophy, hypomyelinating, 12
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
- Expert Review
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Leukodystrophy, hypomyelinating, 12, 616683
- Leukodystrophy, hypomyelinating, 12 (MIM 616683)
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Leukodystrophy, hypomyelinating, 12, 616683
|