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
- Muscular dystrophy, limb-girdle, type 2G, 601954
- Congenital muscular dystrophies
- Limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy, Recessive
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
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review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- South West GLH
- London South GLH
- North West GLH
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Cardiomyopathy, hypertrophic, 25 (607487)
- Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Cardiomyopathy, dilated, 1N
- Cardiomyopathy, hypertrophic, 25 (607487)
- Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954
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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)
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Congenital muscular dystrophies
|
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 Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Limb-Girdle Muscular Dystrophy, Recessive
- Muscular dystrophy, limb-girdle, type 2G, 601954
- Limb-girdle muscular dystrophy
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.20
Latest signed off version: v2.8
(22 Mar 2023)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- UKGTN
- South West GLH
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- North West GLH
- Expert list
- Emory Genetics Laboratory
- South West GLH
- London South GLH
- North West GLH
Phenotypes
- Cardiomyopathy, hypertrophic, 25 (607487)
- Cardiomyopathy, dilated, 1N
- Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954)
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
|
Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
- South West GLH
Phenotypes
- Congenital muscular dystrophies
- Cardiomyopathy, dilated, 1N
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Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cardiomyopathy, hypertrophic, 25, 607487
- Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954
|