Childhood onset hereditary spastic paraplegia

Gene: TNR

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Spastic para- or tetraparesis, apparent from infancy or early childhood, was reported in 13/15 individuals with biallelic variants in this gene.

Created: 8 Sep 2020, 5:15 p.m. | Last Modified: 11 Sep 2025, 2:36 p.m.

Panel Version: 8.10

PMID: 22730557 (2012) - Homozygous deletion involving the TNR gene, identified in a patient with GDD, cognitive deficit, transient hyperkinetic movement disorder (opisthotonic posturing and choreoathetosis), central hypotonia and peripheral spasticity. Both parents and an unaffected sibling were heterozygous for the deletion, but no functional studies of the variant were undertaken.

PMID: 32099069 (2020) - 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis, axial muscular hypotonia, developmental delay, and transient opisthotonus. Mild-modertate cognitive impairment was reported in 7/13 patients. No functional studies were undertaken.

Created: 8 Sep 2020, 5:14 p.m. | Last Modified: 8 Sep 2020, 5:14 p.m.

Panel Version: 3.293

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 22730557
• 32099069

Green List (high evidence)

13 individuals from 8 unrelated families reported.
Sources: Expert list

Created: 10 Mar 2020, 10:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus

Publications

• 32099069

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