Structural eye disease
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Riviere et al. 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4: 10 unrelated families with ACTB variants. Most variants reported are missense and some have been reported as gain-of-functionCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1, 243310
Publications
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Riviere et al. 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4: 10 unrelated families with ACTB variants. Most variants reported are missense and some have been reported as gain-of-functionCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1, 243310
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Baraitser-Winter syndrome 1, 243310
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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
- Intellectual disability
- Malformations of cortical development
- Structural eye disease
- Fetal anomalies
- 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
- DDG2P
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1, 243310; Baraitser-Winter syndrome 1, 243310 to Baraitser-Winter syndrome 1, 243310
Added New Source, Set mode of pathogenicity, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ACTB. Mode of pathogenicity for gene ACTB was changed from to Other - please provide details in the comments Added phenotypes Baraitser-Winter syndrome 1, 243310 for gene: ACTB
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ACTB was added gene: ACTB was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to 2505231 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310