Intellectual disability
Gene: TNR

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.

Panel Version: 9.299

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Impaired intellectual development noted in multiple individuals with biallelic variants in this gene, although the severity was highly variable and no formal neuropsychological testing was done. Nonetheless, cognitive developmental delay was recorded as moderate in at least 5 unrelated cases which supports inclusion on the panel.
Created: 8 Sep 2020, 5:15 p.m. | Last Modified: 11 Sep 2025, 2:31 p.m.

Panel Version: 9.92

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, 2:31 p.m.
Panel version: 9.299

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

32099069

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

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

Panel version: 3.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

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