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  2. Paroxysmal Dyskinesia
  3. RHOBTB2
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Paroxysmal Dyskinesia

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Epileptic encephalopathy, early infantile, 64, MIM# 618004

Created: 2 Oct 2020, 7:08 a.m.
Last Modified: 2 Oct 2020, 7:08 a.m.
Panel version: 0.80

Eunice Chan (Royal Children's Hospital)

At least 5/10 patients described had paroxysmal, or chorea-like movements
8/10 have a movement disorder
Sources: Other
Created: 2 Oct 2020, 4:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paroxysmal movement disorder

Publications

Created: 2 Oct 2020, 4:11 a.m.

Panel version: 0.80

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 64, MIM# 618004
  • Paroxysmal movement disorder
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 Paroxysmal movement disorder to Epileptic encephalopathy, early infantile, 64, MIM# 618004; Paroxysmal movement disorder

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 Paroxysmal Dyskinesia. 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 Paroxysmal movement disorder