This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: ACTB
ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
1 review
Emily Jones (North Bristol NHS Trust)
Associated with Dystonia-Deafness Syndrome. A single variant, c.547C>T has been reported, in >3 families.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- South West GLH
- Phenotypes
-
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Monogenic hearing loss
- COVID-19 research
- Fetal anomalies
- Malformations of cortical development
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Ocular coloboma
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Adult onset neurodegenerative disorder
- Structural eye disease
- Early onset dystonia
- Bleeding and platelet disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited bleeding disorders
- Clefting
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 3
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ACTB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 for gene: ACTB
2 Apr 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to ACTB. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ACTB was added gene: ACTB was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: ACTB was set to