Cerebellar hypoplasia
Gene: L1CAM
L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
1 review
Dmitrijs Rots (Children's Clinical University Hospital)
In PMID: 31474318 found 3 patient with DNM variant and cerebellar hypoplasia, and additionally summarized another 13 from the literature (see suplements of the paper).
Sources: LiteratureCreated: 26 Jul 2021, 7:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cerebellar hypoplasia
Publications
- PMID: 3147431
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Cerebellar hypoplasia
- OMIM
- 308840
- Clinvar variants
- Variants in L1CAM
- Penetrance
- Complete
- Publications
-
- PMID: 3147431
- Panels with this gene
-
- Cerebellar hypoplasia
- Gastrointestinal neuromuscular disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Arthrogryposis
- Hydrocephalus
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Pituitary hormone deficiency
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
26 Jul 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Dmitrijs Rots (Children's Clinical University Hospital)gene: L1CAM was added gene: L1CAM was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: L1CAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: L1CAM were set to PMID: 3147431 Phenotypes for gene: L1CAM were set to Cerebellar hypoplasia Penetrance for gene: L1CAM were set to Complete Review for gene: L1CAM was set to GREEN gene: L1CAM was marked as current diagnostic