Hereditary spastic paraplegia - childhood onset

Gene: CPT1C

Green List (high evidence)

CPT1C (carnitine palmitoyltransferase 1C)
EnsemblGeneIds (GRCh38): ENSG00000169169
EnsemblGeneIds (GRCh37): ENSG00000169169
OMIM: 608846, Gene2Phenotype
CPT1C is in 3 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

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: 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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

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

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

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: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spastic paraplegia 73, autosomal dominant, 616282, AD

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 73, autosomal dominant, OMIM:616282
OMIM
608846
Clinvar variants
Variants in CPT1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cpt1c has been classified as Green List (High Evidence).

22 Nov 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: CPT1C were set to 25751282; 30564185

22 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282, AD to Spastic paraplegia 73, autosomal dominant, OMIM:616282

13 May 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CPT1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CPT1C were set to

13 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to CPT1C. Rating Changed from Green List (high evidence) to Green List (high evidence)

28 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cpt1c has been classified as Green List (High Evidence).

28 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CPT1C were changed from to ?Spastic paraplegia 73, autosomal dominant, 616282, AD

28 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: CPT1C was changed from to BIALLELIC, autosomal or pseudoautosomal

28 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CPT1C.

28 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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