L1CAM Chromosome X

L1 cell adhesion molecule
250 variants 250 Health Risk

Upload your DNA to see your personal genotypes for variants in L1CAM.

What This Gene Does
The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000198910
Associated Conditions (28)
Spastic paraplegia
Inborn genetic diseases
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked hydrocephalus syndrome
See cases
Hereditary spastic paraplegia
L1CAM-related disorder
Hereditary ataxia
History of neurodevelopmental disorder
L1 syndrome
Intellectual disability
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Muscular dystrophy
limb-girdle
autosomal recessive 23
L1CAM-related disorders
+8 more conditions
Key Variants
RS1032992615
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1064796541
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1172761444
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS1206062430
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1273221058
Conflicting classifications of pathogenicity
Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
Health Risk
RS1298830102
Conflicting classifications of pathogenicity
Spastic paraplegia, MASA syndrome, X-linked complicated corpus callosum dysgenesis
Health Risk
RS1372534909
Conflicting classifications of pathogenicity
See cases, Spastic paraplegia, See cases
Health Risk
RS137940405
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS139197516
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, MASA syndrome
Health Risk
RS141213959
Conflicting classifications of pathogenicity
Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
Health Risk
RS1424993007
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
Health Risk
RS142563956
Conflicting classifications of pathogenicity
Spastic paraplegia, L1CAM-related disorder, Spastic paraplegia
Health Risk
All Variants (250)
RSID Category Clinical Significance Conditions
RS1032992615 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
RS1064796541 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1172761444 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1206062430 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
RS1273221058 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
RS1298830102 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, MASA syndrome, X-linked complicated corpus callosum dysgenesis
RS1372534909 Health Risk Conflicting classifications of pathogenicity See cases, Spastic paraplegia, See cases
RS137940405 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS139197516 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, MASA syndrome
RS141213959 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
RS1424993007 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
RS142563956 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder, Spastic paraplegia
RS144542429 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
RS145823218 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder, Spastic paraplegia
RS145986413 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
RS147234859 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
RS147251476 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
RS1484399991 Health Risk Conflicting classifications of pathogenicity X-linked complicated corpus callosum dysgenesis, Spastic paraplegia, X-linked complicated corpus callosum dysgenesis
RS148516831 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS149309725 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
RS149420127 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
RS149737236 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia, Inborn genetic diseases
RS1557090130 Health Risk Conflicting classifications of pathogenicity X-linked hydrocephalus syndrome, X-linked complicated corpus callosum dysgenesis, MASA syndrome
RS1557091552 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1557092073 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
RS1557092782 Health Risk Conflicting classifications of pathogenicity X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1603276146 Health Risk Conflicting classifications of pathogenicity MASA syndrome, X-linked complicated corpus callosum dysgenesis, X-linked hydrocephalus syndrome
RS199592861 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
RS199796566 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder, Spastic paraplegia
RS199822230 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS199888009 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia, Inborn genetic diseases
RS200402620 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder, Spastic paraplegia
RS200561489 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200688598 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200768501 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200798819 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
RS200809259 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200813995 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200815347 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases, Spastic paraplegia
RS200863731 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
RS201052754 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, Inborn genetic diseases
RS201057718 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, X-linked hydrocephalus syndrome, Spastic paraplegia
RS201070961 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS201081454 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia, Inborn genetic diseases
RS201128366 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia, L1CAM-related disorder
RS201372074 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS201474883 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS201664558 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia, Hereditary spastic paraplegia
RS201704250 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia, Spastic paraplegia
RS201886318 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
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