Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type V 608654
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- BRIDGE Study Tier 1 Gene
Phenotypes
- Hereditary sensory neuropathy type V
- HSAN 5
- Neuropathy, hereditary sensory and autonomic, type V, 608654
- Congenital sensory neuropathy with selective loss of small myelinated fibers
|
Version 1.10
Signed off v.1.2
on 27 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
Phenotypes
- Congenital sensory neuropathy with selective loss of small myelinated fibers
- Neuropathy, hereditary sensory and autonomic, type V, 608654
- Hereditary sensory neuropathy type V
- HSAN 5
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type V, 608654
- Hereditary Sensory and Autonomic Neuropathy, Type V
- Neuropathy, hereditary sensory and autonomic, type V, 608654
- Hereditary Sensory and Autonomic Neuropathy, Type V
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.717
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 1.19
Signed off v.1.2
on 27 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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, hereditary sensory and autonomic, type V, 608654
- Hereditary Sensory and Autonomic Neuropathy, Type V
|