Adult onset hereditary spastic paraplegia
Gene: L1CAMThe 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
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
Perinatal/childhood onset.Created: 22 Sep 2020, 5:09 a.m. | Last Modified: 22 Sep 2020, 5:09 a.m.
Panel Version: 1.7
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
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.
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
Tag Q3_21_phenotype was removed from gene: L1CAM.
Source Expert Review Amber was added to L1CAM. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: L1CAM.
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
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
Publications for gene: L1CAM were set to
Source Yorkshire and North East GLH was added to L1CAM.
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)
Source NHS GMS was added to L1CAM.
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