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Prepair 1000+

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

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

ClinGen: Definitive gene-disease assoc - 'These phenotypic features are only present in males.'

OMIM contains assertions for associations with a number of disorders with overlapping features: these likely represent a spectrum for a single disorder.

Early onset spastic paraplegia is a prominent feature of the phenotype. The syndrome is also known as SPG1.

At least 6 male cases in 5 unrelated families reported with hydrocephalus and Hirchsprung disease/intestinal pseudo-obstruction.

Malformations of cortical development are not a major feature of L1CAM-related disease and are not mentioned in GeneReviews, however it may be a less typical feature:
Created: 12 Mar 2025, 5:17 a.m. | Last Modified: 12 Mar 2025, 5:17 a.m.
Panel Version: 1.1568

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

Phenotypes
MASA syndrome, MIM#303350; Hydrocephalus, congenital, X-linked, MIM#307000

Publications

History Filter Activity

13 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

13 Mar 2025, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: L1CAM were changed from MASA syndrome, 303350 (3) to MASA syndrome, MIM#303350; Hydrocephalus, congenital, X-linked, MIM#307000

13 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: L1CAM were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes MASA syndrome, 303350 (3) for gene: L1CAM

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: L1CAM was added gene: L1CAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 MASA syndrome, 303350 (3)