Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type IA 162400
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Hereditary sensory neuropathy type IA
- HSAN 1
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
|
Version 1.10
Signed off v.1.2
on 27 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- HSAN 1
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
- Hereditary sensory neuropathy type IA
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
- Charcot-Marie-Tooth disease
- Familial dysautonomia
|
Version 2.50
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Charcot-Marie-Tooth disease
- Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
- Familial dysautonomia
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hereditary Sensory and Autonomic Neuropathy, Type II
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
- Hereditary Sensory and Autonomic Neuropathy, Type II
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Version 1.21
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
- Hereditary Sensory and Autonomic Neuropathy, Type II
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
|
Version 1.74
Signed off v.1.58
on 6 Oct 2020
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.43
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type IA, 162400
|