Adult onset neurodegenerative disorder
Gene: ACTBEnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 19 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Congenital onsetCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Unknown
Phenotypes
Dystonia, juvenile-onset, 607371; Baraitser-Winter syndrome 1, 243310
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
Only evidence is 1 family: Affected MZ twins with ACTB variant, not found in mother or 2 half-sibs (16685646).Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
- OMIM
- 102630
- Clinvar variants
- Variants in ACTB
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood onset dystonia, chorea or related movement disorder
- Bleeding and platelet disorders
- Fetal anomalies
- COVID-19 research
- Clefting
- Ocular coloboma
- Structural eye disease
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Early onset dystonia
- DDG2P
- Adult onset dystonia, chorea or related movement disorder
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Monogenic hearing loss
- Inherited bleeding disorders
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ACTB.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ACTB.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ACTB.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ACTB was added gene: ACTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ACTB was set to Unknown Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310