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Childhood onset dystonia, chorea or related movement disorder

Gene: TNR

Green List (high evidence)
TNR (tenascin R)
EnsemblGeneIds (GRCh38): ENSG00000116147
EnsemblGeneIds (GRCh37): ENSG00000116147
OMIM: 601995, Gene2Phenotype
TNR is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 2:26 p.m. | Last Modified: 11 Mar 2026, 2:26 p.m.
Panel Version: 7.15
Created: 11 Mar 2026, 2:26 p.m.
Last Modified: 11 Mar 2026, 2:26 p.m.
Panel version: 7.15

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Movement disorders such as dystonia (8/14) and choreoathetosis (3/14) were reported in several individuals with biallelic variants in this gene.
Created: 8 Sep 2020, 5:15 p.m. | Last Modified: 11 Sep 2025, 2:43 p.m.
Panel Version: 7.4
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

Created: 8 Sep 2020, 5:14 p.m.
Last Modified: 11 Sep 2025, 2:43 p.m.
Copied from panel: Intellectual disability v9.92

Zornitza Stark (Australian Genomics)

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

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

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

Copied from panel: Intellectual disability v9.92

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653
OMIM
601995
Clinvar variants
Variants in TNR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2026, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: TNR.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TNR. Source Expert Review Green was added to TNR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

11 Sep 2025, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: TNR was added gene: TNR was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Expert list,Expert Review Amber Q3_25_promote_green tags were added to gene: TNR. Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNR were set to 28334938; 32099069 Phenotypes for gene: TNR were set to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653