Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- Eligibility statement prior genetic testing
Phenotypes
- Myopathy, myofibrillar, 2, OMIM:608810
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cataract 16, multiple types, OMIM:613763
- Myopathy, myofibrillar, 2, OMIM:608810
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.9
Latest signed off version: v4.8
(1 May 2024)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Myopathy, myofibrillar, 2, OMIM:608810
|
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
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cardiomyopathy, dilated, 1II, OMIM:615184
- Myopathy, myofibrillar, 2, OMIM:608810
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Myopathy, myofibrillar, 2, OMIM:608810
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Myopathy, myofibrillar, 2, OMIM:608810
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.33
Latest signed off version: v4.32
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Myopathy, myofibrillar, 2, OMIM:608810
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.25
Latest signed off version: v2.23
(1 May 2024)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Cardiomyopathy, dilated, 1II, OMIM:615184
- Myopathy, myofibrillar, 2, OMIM:608810
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869
- CATARACT POSTERIOR POLAR TYPE 2 613763
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
|
Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Cataract 16, multiple types, OMIM:613763
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- South West GLH
- Expert Review Amber
Phenotypes
- Cardiomyopathy, dilated, 1II, OMIM:615184
- Myopathy, myofibrillar, 2, OMIM:608810
|
Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cataract 16, multiple types, 613763
- Myopathy, myofibrillar, 2, 608810
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869
- Cardiomyopathy, dilated, 1II, 615184
|