This Panel is marked as Internal
Dystonia - childhood onset
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Clefting
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- COVID-19 research
- Ocular coloboma
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Structural eye disease
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ACTB was added gene: ACTB was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: ACTB was set to Unknown Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310