Hirschsprung disease
Gene: L1CAM
L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 308840
- Clinvar variants
- Variants in L1CAM
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Gastrointestinal neuromuscular disease
- Hirschsprung disease
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Cerebral Palsy
History Filter Activity
13 Apr 2021, Gel status: 3
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: l1cam has been classified as Green List (High Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: L1CAM was added gene: L1CAM was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: L1CAM was set to Unknown