Bleeding and Platelet Disorders
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels
3 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert listCreated: 11 Aug 2020, 2:55 a.m. | Last Modified: 11 Aug 2020, 2:56 a.m.
Panel Version: 0.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Publications
Sebastian Lunke (Victorian Clinical Genetics Services)
Comment on mode of pathogenicity: Both GoF and LoF describedCreated: 4 Feb 2020, 12:41 a.m. | Last Modified: 4 Feb 2020, 12:41 a.m.
Panel Version: 0.1231
Melanie Marty (Victorian Clinical Genetics Services)
Missense variants cause gain of function and are associated with Baraitser-Winter syndrome. PTC variants result in haploinsufficiency (loss of function) and cause a similar, but distinct phenotype to Baraitser-Winter syndrome (PMID: 29220674).Created: 3 Feb 2020, 10:36 p.m. | Last Modified: 3 Feb 2020, 10:36 p.m.
Panel Version: 0.1220
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Dystonia, juvenile-onset 607371; Baraitser-Winter syndrome 1 243310; ACTB-related neurodevelopment disorder
Publications
Mode of pathogenicity
Other
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
- Expert list
- Expert Review Green
- Phenotypes
-
- Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Clefting disorders
- Kabuki syndrome
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Craniosynostosis
- Anophthalmia_Microphthalmia_Coloboma
- Fetal anomalies
- Additional findings_Paediatric
- Lissencephaly and Band Heterotopia
- Phagocyte Defects
- Dystonia - complex
- Mosaic skin disorders
- Mendeliome
- Callosome
- Cerebral Palsy
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ACTB were changed from Syndromic thrombocytopaenia to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ACTB was added gene: ACTB was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to 30315159 Phenotypes for gene: ACTB were set to Syndromic thrombocytopaenia Review for gene: ACTB was set to GREEN