Pituitary hormone deficiency
Gene: L1CAMEnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on mode of inheritance: Using the default X linked mode of inheritance as only 1 case reported to date in a male, whose mother was a heterozygous carrier and so there is insufficient evidence to say whether biallelic variants are required for a clinical phenotype in females. For L1 syndrome female carriers have been noted to show minor features, such as adducted thumbs or mild intellectual deficits.Created: 17 Sep 2022, 5:35 p.m. | Last Modified: 17 Sep 2022, 5:37 p.m.
Panel Version: 2.53
PMID: 31504653 - Gregory et al 2019 - investigated 5 patients from 4 unrelated families who presented with variable congenital hypopituitarism (CH) and arthrogryposis. 1 Afro-Caribbean male patient was found by WES to have a hemizygous L1CAM c.1354G>A, p.G452R variant. This patient also had hydrocephalus and other features consistent with L1 syndrome.Created: 17 Sep 2022, 5:25 p.m. | Last Modified: 17 Sep 2022, 5:25 p.m.
Panel Version: 2.50
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Gregory LC, Shah P, Sanner JRF, Arancibia M, Hurst J, Jones WD, Spoudeas H, Le Quesne Stabej P, Williams HJ, Ocaka LA, Loureiro C, Martinez-Aguayo A, Dattani MT.J Clin Endocrinol Metab. 2019 Dec 1;104(12):5737-5750. doi: 10.1210/jc.2019-00631.PMID:31504653Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
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
HYDROCEPHALUS, ARTHROGRYPOSIS
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
-
- Expert review
- Phenotypes
-
- CRASH syndrome, OMIM:303350
- MASA syndrome, OMIM:303350
- OMIM
- 308840
- Clinvar variants
- Variants in L1CAM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- DDG2P
- Cerebellar hypoplasia
- Gastrointestinal neuromuscular disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Hydrocephalus
- Hereditary spastic paraplegia
- Arthrogryposis
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Pituitary hormone deficiency
- Hereditary neuropathy or pain disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: L1CAM were changed from to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: L1CAM were set to
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: L1CAM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: L1CAM was added gene: L1CAM was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: L1CAM was set to