Arthrogryposis
Gene: L1CAMComment 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
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
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
Source NHS GMS was added to L1CAM.
Gene: l1cam has been classified as Red List (Low Evidence).
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