Hereditary spastic paraplegia - adult onset

Gene: L1CAM

Green List (high evidence)

L1CAM (L1 cell adhesion molecule)
EnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 15 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Review of literature did not reveal any adult onset cases - infantile and childhood onset only.

The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.
Created: 1 Sep 2021, 1:12 p.m. | Last Modified: 1 Sep 2021, 1:12 p.m.
Panel Version: 1.72

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Perinatal/childhood onset.
Created: 22 Sep 2020, 5:09 a.m. | Last Modified: 22 Sep 2020, 5:09 a.m.
Panel Version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset. Adult onset not reported.
Created: 9 May 2019, 6:02 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

Louise Daugherty (Genomics England Curator)

I don't know

Comment on mode of inheritance: Changed MOI due to upload of review MOI "X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females" in inclusion of 'recessive' would result in an error with tiering, so has been corrected to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females'
Created: 5 Nov 2019, 2:52 p.m. | Last Modified: 5 Nov 2019, 2:52 p.m.
Panel Version: 1.1
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

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: 25 Apr 2019, 1:22 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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
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
Tags
Q3_21_phenotype
OMIM
308840
Clinvar variants
Variants in L1CAM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_phenotype tag was added to gene: L1CAM.

24 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: L1CAM were changed from Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 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

5 Nov 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: L1CAM were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to L1CAM.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to L1CAM. Mode of inheritance for gene L1CAM was changed from to X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females Added phenotypes Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 for gene: L1CAM Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to L1CAM.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: L1CAM was added gene: L1CAM was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: L1CAM was set to