Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
Phenotypes
- Neutral lipid storage disease with myopathy, OMIM:610717
Tags
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Neutral Lipid Storage Disease with Myopathy
- Neutral lipid storage disease with myopathy, 610717
|
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 Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Neutral Lipid Storage Disease with Myopathy
- Neutral lipid storage disease with myopathy, 610717
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
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
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Neutral lipid storage disease with myopathy, OMIM:610717
|
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 Amber
- Expert list
Phenotypes
- Neutral lipid storage disease with myopathy, OMIM:610717
Tags
|
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
- Expert Review Green
- NHS GMS
- Expert Review
Phenotypes
- Neutral lipid storage disease with myopathy MIM#610717
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
|
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
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717
|
Version 3.47
Latest signed off version: v3.0
(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
- Expert Review Amber
- NHS GMS
- South West GLH
- MetBioNet
- MetBioNet
- South West GLH
Phenotypes
- DCM
- Neutral lipid storage disease with myopathy NLSDM
- Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes
|