Gastrointestinal neuromuscular disorders
Gene: L1CAM
At least 6 individuals reported.Created: 31 Jul 2021, 1:44 a.m. | Last Modified: 31 Jul 2021, 1:44 a.m.
Panel Version: 1.15
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
Comment on list classification: Reported in only one case to date. Would be expected to have other features.Created: 25 Oct 2016, 3:56 p.m.
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.Created: 19 Oct 2016, 11:55 a.m.
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
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.
This gene has been classified as Amber List (Moderate Evidence).
Publications for L1CAM were set to 18854860; 15368500
This gene has been classified as Amber List (Moderate Evidence).
L1CAM was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
L1CAM was created by sleigh