Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.24
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Eligibility statement prior genetic testing
- UKGTN
Phenotypes
- Striate keratoderma with woolly hair
- Cardiomyopathy, dilated, 1I
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48
Latest signed off version: v1.21
(11 Nov 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Myopathy, myofibrillar 1, 601419
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.21
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Myopathy, myofibrillar, 1 601419
|
Version 1.73
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Striate keratoderma with woolly hair
- Cardiomyopathy, dilated, 1I
|
Version 5.352
Latest signed off version: v5.43
(4 Mar 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Myopathy, myofibrillar, 1, 601419
- Muscular dystrophy, limb-girdle, type 2R
- Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
- Myopathy, myofibrillar 1, 601419
|
Version 1.37
Latest signed off version: v1.5
(20 Aug 2020)
Component of the following Super Panels:
Sudden cardiac death
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- South West GLH
- Expert list
Phenotypes
- Desminopathy-associated AV conduction block
- atrioventricular block (disease), MONDO:0000465
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.41
Latest signed off version: v2.11
(15 Oct 2020)
Component of the following Super Panels:
Sudden cardiac death
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert list
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.15
Latest signed off version: v2.9
(15 Oct 2020)
Component of the following Super Panels:
Sudden cardiac death
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- South West GLH
- London South GLH
- Expert Review Green
- UKGTN
- Expert list
Phenotypes
- Cardiomyopathy, dilated, 1I (604765)
- Myopathy, myofibrillar, 1 (601419)
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.78
|
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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
- Cardiomyopathy, dilated, 1I,
- Cardiomyopathy, dilated, 1I, (604765)
- Myopathy, myofibrillar, 1 (601419)
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2
(13 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
Phenotypes
- myofibrillar myopathy
- Myopathy, myofibrillar, 1, 601419Cardiomyopathy, dilated, 1I, 604765Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400?Muscular dystrophy, limb-girdle, type 2R, 615325
- Myofibrillar Myopathy, Dominant
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.89
Latest signed off version: v2.2
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Myopathy, myofibrillar, 1, 601419
- Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.44
Latest signed off version: v2.4
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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, limb-girdle, type 2R, 615325
- myofibrillar myopathy
- cardiomyopathy
- limb girdle muscular dystrophy
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.28
Latest signed off version: v1.6
(15 Oct 2020)
Component of the following Super Panels:
Sudden cardiac death
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- 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
- Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
- Myopathy, myofibrillar, 1 (601419)
- Cardiomyopathy, dilated, 1I, (604765)
- Cardiomyopathy, dilated, 1I,
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.454
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
|
Version 1.76
Latest signed off version: v1.4
(19 Feb 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- Expert Review Green
Phenotypes
- Cardiomyopathy, dilated, 1I,
|
Version 1.103
Latest signed off version: v1.36
(5 Aug 2021)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
Phenotypes
|
Version 1.127
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Myopathy, myofibrillar, 1, 601419
- Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
- Cardiomyopathy, dilated, 1I, 604765
|