Arthrogryposis
Gene: L1CAMEnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Set rating as Red based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).Created: 10 Dec 2019, 10:21 a.m. | Last Modified: 10 Dec 2019, 10:21 a.m.
Panel Version: 2.119
This gene was added to the panel by Julie Vogt, Dec 6 2019 on behalf of the GMS Neurology Specialist Test Group. Gene Symbol submitted: L1CAM; Suggested initial gene rating: Red; Evidence for inclusion: PMID:31504653.Created: 10 Dec 2019, 10:19 a.m. | Last Modified: 10 Dec 2019, 10:19 a.m.
Panel Version: 2.118
Julie Vogt (West Midlands Regional Genetics Service)
Sources: OtherCreated: 6 Dec 2019, 4:46 p.m. | Last Modified: 6 Dec 2019, 4:47 p.m.
Panel Version: 2.108
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
arthrogryposis; congenital hypopituitarism
Publications
- PMID: 31504653
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- arthrogryposis
- congenital hypopituitarism
- OMIM
- 308840
- Clinvar variants
- Variants in L1CAM
- Penetrance
- None
- Publications
-
- PMID: 31504653
- Panels with this gene
-
- DDG2P
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- Cerebellar hypoplasia
- Gastrointestinal neuromuscular disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hydrocephalus
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Pituitary hormone deficiency
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: L1CAM was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to L1CAM.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: l1cam has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Julie Vogt (West Midlands Regional Genetics Service)gene: L1CAM was added gene: L1CAM was added to Arthrogryposis. Sources: Other Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: L1CAM were set to PMID: 31504653 Phenotypes for gene: L1CAM were set to arthrogryposis; congenital hypopituitarism Review for gene: L1CAM was set to RED