Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Fetal Akinesia Deformation Sequence
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150
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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
|
Sources
Phenotypes
- acute respiratory crises
- Congenital Myasthenic Syndrome, Recessive
- late and early onset
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
- Congenital myasthenic syndrome
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Congenital Myasthenic Syndrome, Recessive
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency,
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
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
- Wessex and West Midlands GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
|
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 Red
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Fetal akinesia deformation sequence 1, 208150
- Congenital myasthenic syndrome
- Limb-girdle muscular dystrophy
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Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- FETAL AKINESIA DEFORMATION SEQUENCE
- CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
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Version 3.87
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
- CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931
- FETAL AKINESIA DEFORMATION SEQUENCE 208150
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Version 3.89
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Fetal akinesia deformation sequence 2, OMIM:618388
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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 Red
Phenotypes
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Fetal akinesia deformation sequence 2, 618388
- Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
|