Childhood onset hereditary spastic paraplegia
Gene: L1CAM
Childhood onset.Created: 9 May 2019, 6:03 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
several publications in unlated families. wide spectrum of clinical features , SPG1 and MASA syndrome considered to be part of same disease spectrum,In sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females
Phenotypes
X-linked hydrocephalus, 307000; MASA syndrome 303350; Hereditary spastic paraplegia, 308840
Neonatal onsetCreated: 14 Jan 2019, 5:13 p.m.
Phenotypes for gene: L1CAM were changed from Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 to CRASH syndrome, OMIM:303350; MASA syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000
Publications for gene: L1CAM were set to 7920659
Source Yorkshire and North East GLH was added to L1CAM.
Source NHS GMS was added to L1CAM.
Source London North GLH was added to L1CAM.
Added phenotypes Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 for gene: L1CAM
Arianna Tucci: Neonatal onset
Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome, 303350; Hereditary spastic paraplegia
Phenotypes for gene: L1CAM were changed from X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia to X-linked hydrocephalus, MASA syndrome,303350; Hereditary spastic paraplegia
Publications for gene: L1CAM were set to 7920659
Publications for gene: L1CAM were set to PMID: 7920659
gene: L1CAM was added gene: L1CAM was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to PMID: 7920659 Phenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia