Version 2.131
Latest signed off version: v2.3
(2 Mar 2020)
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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 (congenital with brain and eye anomalies), type A, 4, OMIM:253800
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.78
Latest signed off version: v1.34
(4 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Literature
- UKGTN
Phenotypes
- Fukuyama congenital muscular dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Tags
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Version 5.352
Latest signed off version: v5.43
(4 Mar 2020)
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
- Limb-girdle muscular dystrophy
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
- Fukuyama congenital muscular dystrophy
- Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
- Cardiomyopathy, dilated, 1X, 611615
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
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Version 2.300
Latest signed off version: v2.23
(8 Oct 2020)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Fukuyama congenital muscular dystrophy
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 2.92
Latest signed off version: v2.4
(4 Mar 2020)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
- Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76
(5 Aug 2021)
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.148
Latest signed off version: v2.2
(25 Feb 2020)
Component of the following Super Panels:
Cerebral malformations
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Tags
- non-coding-known-pathogenic
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.77
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- South West GLH
- London South GLH
- Wessex and West Midlands GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cardiomyopathy, dilated, 1X
- Dilated Cardiomyopathy, Recessive
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.31
Latest signed off version: v2.2
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Fukuyama congenital muscular dystrophy
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2
(13 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Fukuyama congenital muscular dystrophy
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
- Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
- Cardiomyopathy, dilated, 1X, 611615
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
- Limb-girdle muscular dystrophy
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.63
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Fukuyama congenital muscular dystrophy
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
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Version 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
- Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
|
Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.27
Latest signed off version: v1.6
(15 Oct 2020)
Component of the following Super Panels:
Sudden cardiac death
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- South West GLH
- Radboud University Medical Center, Nijmegen
- Wessex and West Midlands GLH
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- Expert list
- Emory Genetics Laboratory
- South West GLH
- London South GLH
- Wessex and West Midlands GLH
Phenotypes
- Dilated Cardiomyopathy, Recessive
- Cardiomyopathy, dilated, 1X
|
Version 1.880
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4
- CARDIOMYOPATHY DILATED TYPE 1X
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4
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Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588
- CARDIOMYOPATHY DILATED TYPE 1X 611615
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152
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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
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.558
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800
- seizures
- Walker-warburg syndrome or muscle-eye-brain disease
- Fukuyama congenital muscular dystrophy
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152Cardiomyopathy, dilated, 1X, 611615Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 (MDDGB4)
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Version 1.132
Latest signed off version: v1.3
(4 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- London North GLH
Phenotypes
- Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800
|
Version 1.75
Latest signed off version: v1.4
(19 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- South West GLH
- Expert Review Green
Phenotypes
- Dilated Cardiomyopathy, Recessive
- Fukuyama Congenital Muscular Dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Cardiomyopathy, dilated, 1X
- Fukuyama congenital muscular dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
- Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
|
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 1.240
Latest signed off version: v1.137
(5 Aug 2021)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800
- Cardiomyopathy, dilated, 1X, 611615
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
|