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  3. TNR
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Cerebral Palsy

Gene: TNR

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

13 individuals from 8 unrelated families reported.
Sources: Expert list
Created: 10 Mar 2020, 9:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus

Publications

Created: 10 Mar 2020, 9:40 a.m.

Panel version: 1.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653
  • 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

19 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus

10 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TNR was added gene: TNR was added to Cerebral Palsy. 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