Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998
- Spinocerebellar ataxia, autosomal recessive 8, 610743
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
- Autosomal recessive ataxia, Beauce type, MONDO:0012549
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
- Autosomal recessive ataxia, Beauce type, MONDO:0012549
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert list
|
Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.23
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998
- Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
- Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
|
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
- Cerebellar Ataxia
- Spinocerebellar ataxia, autosomal recessive 8
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
- Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Red
Phenotypes
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998
- Spinocerebellar ataxia, autosomal recessive 8, 610743
- intellectual disability
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743
- Autosomal recessive ataxia, Beauce type, MONDO:0012549
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 8, 610743
- Arthrogryposis multiplex congenita, myogenic type, 618484
- Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998
|