Malformations of cortical development
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Recognised on G2PCreated: 15 Dec 2016, 3:31 p.m.
Usha Kini (Oxford Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Baraitser Winter syndrome (lissencephaly, pachygyria, polymicrogyria, ptosis, coloboma)
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Fetal anomalies
- Ocular coloboma
- Clefting
- COVID-19 research
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Early onset dystonia
- Structural eye disease
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Inherited bleeding disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been removed from the panel.
Upload gene information
Alice Gardham (Genomics England)ACTB was added to Malformations of cortical developmentpanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Added New Source
Usha Kini (Oxford Centre for Genomic Medicine)ACTB was added to Malformations of cortical developmentpanel. Sources: Expert Review
Created
Usha Kini (Oxford Centre for Genomic Medicine)ACTB was created by Ushak