Childhood onset hereditary spastic paraplegia
Gene: L1CAM

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

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

Created: 9 May 2019, 6:03 p.m.

Panel version: 1.74

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 28 Apr 2019, 5:14 p.m.

Panel version: 1.74

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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 panel
Created: 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

Created: 28 Apr 2019, 4:16 p.m.

Panel version: 1.6

Arianna Tucci (Genomics England Curator)

Neonatal onset
Created: 14 Jan 2019, 5:13 p.m.

Created: 14 Jan 2019, 5:13 p.m.

Panel version: 0.62

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Yorkshire and North East GLH
NHS GMS
London North GLH
Expert Review Green
Expert list
UKGTN

Phenotypes

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

OMIM

308840

Clinvar variants

Variants in L1CAM

Penetrance

None

Publications

Panels with this gene

History Filter Activity

24 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 May 2019, Gel status: 4