Hereditary spastic paraplegia

Gene: L1CAM

Green List (high evidence)

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 13 panels

1 review

helen kingston (CMFT NHS Foundation Trust, Manchester)

Green List (high evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
Phenotypes
  • X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
OMIM
308840
Clinvar variants
Variants in L1CAM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set Phenotypes

emma baple (Genomics England Curator)

Phenotypes for L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia

10 May 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for L1CAM was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

10 May 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

Mode of inheritance for L1CAM was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene L1CAM was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

L1CAM was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

L1CAM was added to Hereditary spastic paraplegiapanel. Sources: Expert list,UKGTN