Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
|
Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Fetal akinesia sequence, MIM#618389
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Myasthenia, limb-girdle, familial, 254300
- Fetal akinesia deformation sequence, 208150
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London South GLH
Phenotypes
- Fetal akinesia deformation sequence 3, OMIM:618389
- Myasthenic syndrome, congenital, 10, OMIM:254300
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.6
Latest signed off version: v4.5
(1 May 2024)
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
- UKGTN
Phenotypes
- Myasthenic syndrome, congenital, 10, OMIM:254300
Tags
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Congenital myasthenic syndrome
- Limb-girdle muscular dystrophy
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Literature
- Expert Review Green
Phenotypes
- ?Fetal akinesia deformation sequence 3, 618389
- Myasthenic syndrome, congenital, 10, 254300
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Unknown
|
Sources
Phenotypes
- Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150
|
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 3, 618389
- Myasthenic syndrome, congenital, 10, 254300
|