Hereditary spastic paraplegia - adult onsetGene: CPT1C
Adult onset. Mouse model. functional study. Single family. Two further patients in exome study (PMID: 30564185).
Created: 10 May 2019, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber 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.
only one family reported but great animal model replicates the phenotype. affected members of a large 3-generation Italian family with autosomal dominant spastic paraplegia-73. In sheffield HSP panel
Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
?Spastic paraplegia 73, autosomal dominant, 616282
Source Expert Review Amber was added to CPT1C. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: CPT1C were set to
Source Yorkshire and North East GLH was added to CPT1C.
Source Expert Review Green was added to CPT1C. Mode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to CPT1C.
gene: CPT1C was added gene: CPT1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CPT1C was set to