Gastrointestinal neuromuscular disorders
Gene: L1CAMEnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
4 reviews
Zornitza Stark (Australian Genomics)
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
Richard Scott (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
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.
Neil shah (GOSH)
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
-
- Hereditary neuropathy
- DDG2P
- Cerebellar hypoplasia
- Gastrointestinal neuromuscular disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Hydrocephalus
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Pituitary hormone deficiency
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
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.
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for L1CAM were set to 18854860; 15368500
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)L1CAM was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)L1CAM was created by sleigh