Version 5.90
Signed off v.5.43
on 4 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Distal Spinal Muscular Atrophy
Tags
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.42
Signed off v.3.2
on 13 Feb 2020
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert list
Tags
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.436
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, type 2D
- Neuropathy, distal hereditary motor, type VA
Tags
|
Version 2.44
Signed off v.2.3
on 17 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Charcot-Marie-Tooth disease, type 2D
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Neuropathy, distal hereditary motor, type VA
Tags
|
Version 1.21
Signed off v.1.17
on 11 Nov 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Neuropathy, distal hereditary motor, type VA, 600794
- Charcot-Marie-Tooth disease, type 2D, 601472
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.35
Signed off v.1.30
on 4 Mar 2020
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Distal Spinal Muscular Atrophy
Tags
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Neuropathy, distal hereditary motor, type V, 600794
- Neuropathy, distal hereditary motor, type V, 600794
- Charcot Marie Tooth disease, type 2D, 601472
Tags
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.12
Signed off v.2.4
on 17 Feb 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert list
- Expert
Phenotypes
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Charcot-Marie-Tooth disease, type 2D
- Neuropathy, distal hereditary motor, type VA
Tags
|
Version 1.19
Signed off v.1.2
on 27 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Neuropathy, distal hereditary motor, type V, 600794
- Charcot Marie Tooth disease, type 2D, 601472
Tags
|
Version 1.72
Signed off v.1.58
on 6 Oct 2020
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
Tags
|
Version 1.42
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, type 2D, 601472
- Neuropathy, distal hereditary motor, type VA, 600794
Tags
|