Cerebral Palsy
Gene: L1CAMEnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
2 reviews
Clare van Eyk (University of Adelaide)
2 males with hemizygous pathogenic variants reported in large retrospective cohort study of patients with cerebral palsy (PMID 33528536). 4 additional males with hemizygous variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.Created: 25 Jun 2024, 7:38 a.m. | Last Modified: 25 Jun 2024, 7:38 a.m.
Panel Version: 1.315
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CRASH syndrome, MIM# 303350
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Likely pathogenic variant in this gene identified as part of a CP cohort, overlapping phenotype.Created: 6 Oct 2020, 10:54 p.m. | Last Modified: 6 Oct 2020, 10:54 p.m.
Panel Version: 0.38
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CRASH syndrome, MIM# 303350
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- CRASH syndrome, MIM# 303350
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: l1cam has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: L1CAM were changed from to CRASH syndrome, MIM# 303350
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 Cerebral Palsy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: L1CAM was set to Unknown