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Hereditary Spastic Paraplegia - paediatric

Gene: L1CAM

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Early onset spastic paraplegia is a prominent feature of the phenotype. The syndrome is also known as SPG1.
Sources: Expert list
Created: 31 Dec 2019, 5:11 a.m.

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

Phenotypes
Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000

Created: 31 Dec 2019, 5:11 a.m.

Panel version: 0.1

History Filter Activity

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: l1cam has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: l1cam has been classified as Green List (High Evidence).

31 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: L1CAM was added gene: L1CAM was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 Review for gene: L1CAM was set to GREEN