Gastrointestinal neuromuscular disease

Gene: L1CAM

Green List (high evidence)

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 male cases in 5 unrelated families reported with hydrocephalus and Hirchsprung disease/intestinal pseudo-obstruction.
Sources: Expert list
Created: 6 Jul 2020, 6:11 a.m. | Last Modified: 6 Jul 2020, 6:24 a.m.
Panel Version: 0.27

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000

Publications

History Filter Activity

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: l1cam has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: l1cam has been classified as Green List (High Evidence).

6 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: L1CAM was added gene: L1CAM was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to 9279760; 11857550; 15148591; 15368500; 22354677 Phenotypes for gene: L1CAM were set to Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000 Review for gene: L1CAM was set to GREEN