Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type IA 162400
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12
|
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 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
- Charcot-Marie-Tooth disease
- Familial dysautonomia
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
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 1.476
|
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 5.499
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
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- macular telangiectasia type 2
- vision loss
Tags
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
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 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
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
|