1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. GTPBP2
Genes in panel
Prev Next

Adult onset dystonia, chorea or related movement disorder

Gene: GTPBP2

Green List (high evidence)
GTPBP2 (GTP binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000172432
EnsemblGeneIds (GRCh37): ENSG00000172432
OMIM: 607434, Gene2Phenotype
GTPBP2 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Jaberi-Elahi syndrome, OMIM:617988
OMIM
607434
Clinvar variants
Variants in GTPBP2
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GTPBP2 were changed from Jaberi-Elahi syndrome, 617988; Dystonia to Jaberi-Elahi syndrome, OMIM:617988

29 Sep 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GTPBP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

29 Sep 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GTPBP2 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Sep 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GTPBP2 were changed from to Jaberi-Elahi syndrome, 617988; Dystonia

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gtpbp2 has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GTPBP2.

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GTPBP2 was added gene: GTPBP2 was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: GTPBP2 was set to