Cerebellar hypoplasia

Gene: L1CAM

No list

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 15 panels

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

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: Literature
Created: 26 Jul 2021, 7:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebellar hypoplasia

Publications

Variants in this GENE are reported as part of current diagnostic practice

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 (RadboudUMC)

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