This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Malformations of cortical development
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Adult onset neurodegenerative disorder
- Clefting
- Bleeding and platelet disorders
- COVID-19 research
- Ocular coloboma
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- Inherited bleeding disorders
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: ACTB was added gene: ACTB was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTB was set to Unknown