Dystonia - complex
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single recurrent gain-of-function missense variant (p.Arg183Trp) is the cause of a dystonia-deafness syndrome in at least 7 cases from 6 unrelated families.Created: 9 Apr 2020, 6:50 a.m. | Last Modified: 9 Apr 2020, 6:50 a.m.
Panel Version: 0.58
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dystonia, juvenile-onset MIM#607371
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Baraitser-Winter syndrome 1, 243310
- Dystonia, juvenile-onset, 607371
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: actb has been classified as Green List (High Evidence).
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: ACTB was changed from to Other
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ACTB was added gene: ACTB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTB were set to 29788902; 28487785 Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310; Dystonia, juvenile-onset, 607371