Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Muscular dystrophy, congenital merosin-deficient, 607855
- Congenital Muscular Dystrophy, LAMA2-related
- Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
|
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
- Expert list
Phenotypes
- Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855
|
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
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
|
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
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Congenital Muscular Dystrophy, LAMA2-related
- Muscular dystrophy, congenital merosin-deficient, 607855
|
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
- NHS GMS
- Yorkshire and North East GLH
- Expert Review
Phenotypes
- Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
- congenital muscular dystroph
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL MUSCULAR DYSTROPHY
|
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 MUSCULAR DYSTROPHY 607855
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
Phenotypes
- Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855
- CONGENITAL MUSCULAR DYSTROPHY
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138
- Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
|