Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
|
review
|
Other
|
Sources
- Expert Review Red
- Eligibility statement prior genetic testing
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
Other
|
Sources
- NHS GMS
- Expert Review Red
- Expert Review
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Level 2: Viral research
Version 1.142
|
review
|
Other
|
Sources
- ESID Registry 20171117
- Expert Review Red
- Expert Review Red
- ESID Registry 20171117
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
Other
|
Sources
- Expert Review Red
- ESID Registry 20171117
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Other
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Other
|
Sources
- Expert Review Red
- Expert list
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
Tags
- nucleotide-repeat-expansion
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
- nucleotide-repeat-expansion
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- Expert list
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- Expert list
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
- Expert Review
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
Tags
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
Tags
|