Childhood onset hereditary spastic paraplegia
Gene: CPT1CComment on list classification: Overall one family with confirmed adult-onset and one with childhood-onset have been reported, as well as two further unrelated cases but unfortunately without indication of age of onset. Although onset is variable, the gene-disease relationship is supported by a strong animal model, and therefore it is worth including CPT1C on both HSP panels as Green.Created: 22 Nov 2021, 4:36 p.m. | Last Modified: 22 Nov 2021, 4:36 p.m.
Panel Version: 2.104
Another family reported by Hong et al., 2019 (PMID: 30911584) including a sib pair with childhood-onset pure HSP. Both harboured a novel nonsense variant in the CPT1C gene which was also identified in the seemingly unaffected mother (except for hyperreflexia and a positive Babinski sign).Created: 22 Nov 2021, 4:24 p.m. | Last Modified: 22 Nov 2021, 4:24 p.m.
Panel Version: 2.102
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
And another family reported in PMID 25751282. However, note onset is in adulthood, and this gene is rated Amber on the adult HSP panel: suggest rating Green there.Created: 18 Sep 2020, 7:30 a.m. | Last Modified: 18 Sep 2020, 7:30 a.m.
Panel Version: 2.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 73, autosomal dominant, 616282
Publications
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 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 panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 73, autosomal dominant, 616282, AD
Gene: cpt1c has been classified as Green List (High Evidence).
Publications for gene: CPT1C were set to 25751282; 30564185
Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282, AD to Spastic paraplegia 73, autosomal dominant, OMIM:616282
Mode of inheritance for gene: CPT1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CPT1C were set to
Source Yorkshire and North East GLH was added to CPT1C. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: cpt1c has been classified as Green List (High Evidence).
Phenotypes for gene: CPT1C were changed from to ?Spastic paraplegia 73, autosomal dominant, 616282, AD
Mode of inheritance for gene: CPT1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to CPT1C.
gene: CPT1C was added gene: CPT1C was added to Hereditary spastic paraplegia - childhood onset. Sources: London North GLH Mode of inheritance for gene: CPT1C was set to