Clefting
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
Helen Brittain (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BARAITSER-WINTER SYNDROME 1; BRWS1
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- BARAITSER-WINTER SYNDROME 1
- BRWS1
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- 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
- Intellectual disability
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Bleeding and platelet disorders
- Inherited bleeding disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
- Clefting
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
26 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ACTB was added to Cleftingpanel. Sources: Expert Review Green
26 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ACTB was created by ellenmcdonagh