Hereditary neuropathy or pain disorder
Gene: L1CAMEnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
5 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Hereditary Neuropathies
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:49 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- NHS GMS
- South West GLH
- Phenotypes
-
- Hereditary Neuropathies
- OMIM
- 308840
- Clinvar variants
- Variants in L1CAM
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Cerebellar hypoplasia
- Gastrointestinal neuromuscular disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Hydrocephalus
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: L1CAM was added gene: L1CAM was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: L1CAM was set to Phenotypes for gene: L1CAM were set to Hereditary Neuropathies