Adult onset hereditary spastic paraplegia
Gene: L1CAMEnsemblGeneIds (GRCh38): ENSG00000198910
EnsemblGeneIds (GRCh37): ENSG00000198910
OMIM: 308840, Gene2Phenotype
L1CAM is in 16 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
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)
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)
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)
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)
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 panelCreated: 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
-
- Expert Review Amber
- Yorkshire and North East GLH
- 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
- OMIM
- 308840
- Clinvar variants
- Variants in L1CAM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar hypoplasia
- Gastrointestinal neuromuscular disorders
- Adult onset neurodegenerative disorder
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Arthrogryposis
- Hydrocephalus
- Intellectual disability
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- Adult onset hereditary spastic paraplegia
- Pituitary hormone deficiency
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_phenotype was removed from gene: L1CAM.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to L1CAM. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_phenotype tag was added to gene: L1CAM.
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
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
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: L1CAM were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to L1CAM.
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)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to L1CAM.
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