Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Insensitivity to pain, congenital, with anhidrosis 256800
|
Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Insensitivity to pain, congenital, with anhidrosis, 256800
- Medullary thyroid carcinoma, familial, 155240
|
Version 0.20
|
review
|
Not set
|
Sources
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Hereditary sensory neuropathy type IV
- HSAN 4
- Insensitivity to pain, congenital, with anhidrosis, 256800
|
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
- HSAN 4
- Hereditary sensory neuropathy type IV
- Insensitivity to pain, congenital, with anhidrosis, 256800
|
Version 1.179
Signed off v.1.92
on 21 Aug 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
|
Version 2.18
Signed off v.2.2
on 13 Feb 2020
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Expert list
Phenotypes
- Hereditary Neuropathies
- Insensitivity to pain, congenital, with anhidrosis
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Insensitivity to pain, congenital, with anhidrosis, 256800
|
Version 1.21
Signed off v.1.2
on 27 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Hereditary Neuropathies
- Insensitivity to pain, congenital, with anhidrosis
|
Version 1.43
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Insensitivity to pain, congenital, with anhidrosis, 256800
- Medullary thyroid carcinoma, familial, 155240
|