Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Congenital disorder of glycosylation, type Io
- congenital muscular dystrophies
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
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
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- London South GLH
- Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937
- ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
Tags
- Q1_23_promote_green
- Q1_23_NHS_review
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
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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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, OMIM:612937
- DPM3-congenital disorder of glycosylation, MONDO:0013049
- ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, OMIM:618992
- muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15, MONDO:0033556
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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Unknown
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Sources
- Expert Review Red
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital disorder of glycosylation, type Io 612937
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
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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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Amber
Phenotypes
- CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O
Tags
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.182
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
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