This Panel is marked as Deleted
Immunological disorders Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- DDG2P
- COVID-19 research
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Ocular coloboma
- Monogenic hearing loss
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Malformations of cortical development
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Bleeding and platelet disorders
- Intellectual disability
- Inherited bleeding disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
- Clefting
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ACTB was added to Immunological disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ACTB was created by Sarah Leigh