Genes in panel

Neurodegenerative disorders - adult onset

Gene: ACTB

Red List (low evidence)

ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 18 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Congenital onset
Created: 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)

I don't know

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)

Red List (low evidence)

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

History Filter Activity

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ACTB.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACTB.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ACTB.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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