Hereditary spastic paraplegia
Gene: L1CAMEnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
1 review
helen kingston (CMFT NHS Foundation Trust, Manchester)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Expert list
- Phenotypes
-
- CRASH syndrome, OMIM:303350
- MASA syndrome, OMIM:303350
- Hydrocephalus due to aqueductal stenosis, OMIM:307000
- Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000
- Hydrocephalus with Hirschsprung disease, OMIM:307000
- OMIM
- 308840
- Clinvar variants
- Variants in L1CAM
- Penetrance
- Complete
- Publications
-
- PMID: 7920659
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Cerebellar hypoplasia
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- 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
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for L1CAM was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for L1CAM was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)L1CAM was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)L1CAM was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN