Version 1.17
|
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 1.12
|
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 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
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 1.477
|
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 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
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
|