Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type VII 615548
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type VII 615548
|
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
- Familial episodic pain syndrome
- Hereditary sensory and autonomic neuropathy type VII
- Neuropathy, hereditary sensory and autonomic, type VII, 615548
- Episodic pain syndrome, familial, 3, 615552
|
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
- Familial episodic pain syndrome
- Episodic pain syndrome, familial, 3, 615552
- Hereditary sensory and autonomic neuropathy type VII
- Neuropathy, hereditary sensory and autonomic, type VII, 615548
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- CONGENITAL INABILITY TO EXPERIENCE PAIN
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL INABILITY TO EXPERIENCE PAIN
- EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Episodic pain syndrome, familial, 3, 615552
- Neuropathy, hereditary sensory and autonomic, type VII, 615548
- CONGENITAL INABILITY TO EXPERIENCE PAIN
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Neuropathy, hereditary sensory and autonomic, type VII, 615548
- Episodic pain syndrome, familial, 3, 615552
|
Version 3.94
Latest signed off version: v3.24
(15 May 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- CONGENITAL INABILITY TO EXPERIENCE PAIN
- Neuropathy, hereditary sensory and autonomic, type VII, 615548
- Episodic pain syndrome, familial, 3, 615552
|
Version 1.184
|
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 VII, 615548
- Episodic pain syndrome, familial, 3, 615552
|