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  3. RHOBTB2
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Dystonia - complex

Gene: RHOBTB2

Green List (high evidence)
RHOBTB2 (Rho related BTB domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000008853
EnsemblGeneIds (GRCh37): ENSG00000008853
OMIM: 607352, Gene2Phenotype
RHOBTB2 is in 6 panels

1 review

Eunice Chan (Royal Children's Hospital)

8/10 patients described had dystonic, paroxysmal, or chorea-like movements
Sources: Other
Created: 2 Oct 2020, 4:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy

Publications

Created: 2 Oct 2020, 4:09 a.m.

Panel version: 0.142

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 64, MIM# 618004
  • Dystonia, hypertonia, movement disorder
  • truncal hypotonia
  • hemiparesis
  • developmental and epileptic encephalopathy
OMIM
607352
Clinvar variants
Variants in RHOBTB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhobtb2 has been classified as Green List (High Evidence).

2 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RHOBTB2 were changed from Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 64, MIM# 618004; Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy

2 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rhobtb2 has been classified as Green List (High Evidence).

2 Oct 2020, Gel status: 0

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

Eunice Chan (Royal Children's Hospital)

gene: RHOBTB2 was added gene: RHOBTB2 was added to Dystonia - complex. Sources: Other Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOBTB2 were set to PMID: 29276004 Phenotypes for gene: RHOBTB2 were set to Dystonia, hypertonia, movement disorder; truncal hypotonia; hemiparesis; developmental and epileptic encephalopathy