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Arthrogryposis

Gene: L1CAM

Red List (low evidence)

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 13 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)

Red List (low evidence)

Sources: Other
Created: 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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • arthrogryposis
  • congenital hypopituitarism
OMIM
308840
Clinvar variants
Variants in L1CAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to L1CAM.

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: l1cam has been classified as Red List (Low Evidence).

6 Dec 2019, Gel status: 0

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