Version 1.17
|
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 1.14
|
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 0.36
|
review
|
Not set
|
Sources
|
Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.12
|
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 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
- HSAN 4
- Hereditary sensory neuropathy type IV
- Insensitivity to pain, congenital, with anhidrosis, 256800
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
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 1.476
|
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 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Insensitivity to pain, congenital, with anhidrosis, 256800
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
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, OMIM:256800
|
Version 1.182
|
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
|