Gastrointestinal neuromuscular disorders

Gene: L1CAM

Amber List (moderate evidence)

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 9 panels

3 reviews

Richard Scott (Genomics England Curator)

Comment on list classification: Reported in only one case to date. Would be expected to have other features.
25 Oct 2016, 3:56 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: One case reported for Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (307000 and 300048) reported in OMIM. >5 cases/families reported for HYDROCEPHALUS, X-LINKED and around 5 cases/families for HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE. Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, Hydrocephalus with Hirschsprung disease and Hydrocephalus due to aqueductal stenosis all fall under the OMIM phenotype http://omim.org/entry/307000. I am therefore unsure whether this gene should be included on this panel.
19 Oct 2016, 11:55 a.m.

Neil shah (GOSH)

Green List (high evidence)

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

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus with congenital idiopathic intestinal pseudoobstruction 307000
OMIM
308840
Clinvar variants
Variants in L1CAM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

25 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for L1CAM were set to 18854860; 15368500

19 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

L1CAM was created by sleigh

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

L1CAM was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen