Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.11
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Charcot-Marie-Tooth disease, type 2A1, 118210Pheochromocytoma, 171300{Neuroblastoma, susceptibility to, 1}, 256700
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Charcot Marie Tooth disease, type 2A1, 118210
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Literature
Phenotypes
- Hypotonia
- coloboma, MONDO:0001476
- hypoplasia of the corpus callosum
- severe neurodevelopmental delay
|
Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Red
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- NHS GMS
- South West GLH
Phenotypes
- Charcot Marie Tooth disease, type 2A1, 118210
|