Inherited bleeding disorders
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
1 review
Louise Daugherty (Genomics England Curator)
PMID: 30315159 describe six individuals from four unrelated families carrying de novo or co-segregating heterozygous variants in exons 5 and 6 of the ACTB gene. Patients are clinically distinct from those with Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF), presenting with mild developmental disability, unspecific minor facial anomalies, microcephaly and thrombocytopenia with platelet anisotropy (variable size including normal and enlarged platelets).
Sources: LiteratureCreated: 6 Mar 2019, 10:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1 with macrothrombocytopenia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Baraitser-Winter syndrome 1 with macrothrombocytopenia
- Platelet disorder
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Bleeding and platelet disorders
- COVID-19 research
- Clefting
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ocular coloboma
- Structural eye disease
- Malformations of cortical development
- Adult onset neurodegenerative disorder
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Inherited bleeding disorders
- DDG2P
- Fetal anomalies
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome 1 with macrothrombocytopenia to Baraitser-Winter syndrome 1 with macrothrombocytopenia; Platelet disorder
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: actb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)gene: ACTB was added gene: ACTB was added to Inherited bleeding disorders. Sources: Literature Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to 30315159; 22366783 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1 with macrothrombocytopenia Review for gene: ACTB was set to GREEN