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

Gene: ACTB

Green List (high evidence)
ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.50

Emily Jones (North Bristol NHS Trust)

Green List (high evidence)

Associated with Dystonia-Deafness Syndrome. A single variant, c.547C>T has been reported, in >3 families. Can present in early adulthood.
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • South West GLH
Phenotypes
  • Dystonia, juvenile-onset, OMIM:607371
  • developmental malformations-deafness-dystonia syndrome MONDO:0011823
  • Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470
OMIM
102630
Clinvar variants
Variants in ACTB
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, OMIM:607371; developmental malformations-deafness-dystonia syndrome MONDO:0011823; Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470

29 Sep 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Sep 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACTB were changed from Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 to Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310

27 Apr 2019, Gel status: 3

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: ACTB was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 for gene: ACTB Publications for gene ACTB were changed from to 28849312; 16685646; 27862284; 28487785; 29788902

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACTB.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ACTB.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ACTB was added gene: ACTB was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: ACTB was set to Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310