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Intellectual disability

Gene: TNR

No list

TNR (tenascin R)
EnsemblGeneIds (GRCh38): ENSG00000116147
EnsemblGeneIds (GRCh37): ENSG00000116147
OMIM: 601995, Gene2Phenotype
TNR is in 1 panel

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Spastic para- or tetraparesis
  • Axial muscular hypotonia
  • Intellectual disability
  • Transient opisthotonus
OMIM
601995
Clinvar variants
Variants in TNR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TNR was added gene: TNR was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNR were set to 32099069 Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus Review for gene: TNR was set to GREEN gene: TNR was marked as current diagnostic