Adult onset hereditary spastic paraplegia

Gene: CPT1C

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

Comment 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: 1.86

I don't know

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

• 25751282
• 30564185

Variants in this GENE are reported as part of current diagnostic practice

I don't know

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.

Green List (high evidence)

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

Phenotypes
?Spastic paraplegia 73, autosomal dominant, 616282