Level 2: Viral research
Version 1.141
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review
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Unknown
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Sources
- Expert Review Green
- OMIM
- Expert list
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Version 4.4
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
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
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Version 19.202
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 muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
- congenital muscular dystrophies
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
- Walker-Warburg syndrome
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Version 4.63
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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Unknown
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Sources
Phenotypes
- congenital muscular dystrophies
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
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
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
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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
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Tags
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
- congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
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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
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
- Limb girdle muscular dystrophy
- congenital muscular dystrophy
- Limb-girdle muscular dystrophy
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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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Not set
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Sources
- Expert Review Amber
- Emory Genetics Laboratory
Phenotypes
- congenital muscular dystrophies
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7
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Version 3.87
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- Walker-Warburg syndrome
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Amber
- London North GLH
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
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Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538
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