Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Not set
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Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
Phenotypes
- Cerebral Malformation Disorders
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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
- Emory Genetics Laboratory
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
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Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
- Limb-girdle muscular dystrophy
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-Girdle Muscular Dystrophy, Recessive
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Version 4.64
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 4.18
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
|
BIALLELIC, autosomal or pseudoautosomal
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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, 2 613150
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
- Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
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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)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A2
- muscular dystrophy-dystroglycanopathy (MDDG)
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Expert Review
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
- Type 2 lissencephaly
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, OMIM:613150
- Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, OMIM:613156
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
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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
|
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-dystroglycanopathy (congenital with brain and eye anomalies), type
- Limb-girdle muscular dystrophy
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
- Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158
- Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
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 A2 613150
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
Latest signed off version: v4.0
(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
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Amber
- Victorian Clinical Genetics Services
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158
- MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 (MDDGB2)
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Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
- Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156
|