Pituitary hormone deficiency
Gene: L1CAMComment 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
Phenotypes for gene: L1CAM were changed from to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350
Publications for gene: L1CAM were set to
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)
gene: L1CAM was added gene: L1CAM was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: L1CAM was set to