Genes in panel
STRs in panel
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COVID-19 research

Gene: ACTB

Green List (high evidence)

ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels

3 reviews

Abdelazeem Elhabyan (Arizona State University)

I don't know

I do not see the relevance to SARS-CoV-2
Created: 7 Apr 2020, 8:08 p.m. | Last Modified: 7 Apr 2020, 8:08 p.m.
Panel Version: 0.61

Sophie Hambleton (Newcastle University)

Red List (low evidence)

One account of neutrophil dysfunction but the major features are those of a profound neurodevelopmental-dysmorphological disorder
Created: 18 Jun 2018, 4:11 p.m.

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ACTB .PanelApp HGNC gene symbol check: ACTB . IUIS Disease: Beta actin deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N + M. IUIS Associated features: Mental retardation, short stature. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of Motility
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Amber to Red. External expert review notes Red status due to major features are those of a profound neurodevelopmental-dysmorphological disorder, also GRID removing gene from panel.
Created: 20 Jun 2018, 2:41 p.m.
Comment on publications: added publication from external review
Created: 20 Jun 2018, 2:39 p.m.
Currently not enough evidence to be promoted. I have contacted GRID to ask if they have any further evidence to support this gene being pertinent on their gene list, so will keep the rating as Amber for now but may downgrade to Red if there is no further evidence
Created: 30 Apr 2018, 2:50 p.m.
Comment on phenotypes: added more relevant PID phenotypes associated to this gene PMID: 24117828
Created: 30 Apr 2018, 2:38 p.m.
Comment on phenotypes: added ESID main category phenotype Phagocytic disorder
Created: 30 Apr 2018, 2:34 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: Actin beta, PanelApp HGNC gene symbol check: ACTB, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Actin beta deficiency / Actin beta deficiency (ACTB)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ACTB, GRID_Gene_Symbol: ACTB, GRID_Transcript_ENS_Community submitted: ENST00000331789, GRID_Transcript_RefSeq: NM_001101.3, GRID_Transcript_ENS_used_on_Production: ENST00000331789
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Congenital defects of phagocyte number or function
  • neutrophil dysfunction
  • Mental retardation, short stature
  • Actin beta deficiency (ACTB)
  • Phagocytic disorder
  • Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
  • Baraitser-Winter syndrome 1, 243310
OMIM
102630
Clinvar variants
Variants in ACTB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to ACTB. Added phenotypes Congenital defects of phagocyte number or function; neutrophil dysfunction; Mental retardation, short stature; Actin beta deficiency (ACTB); Phagocytic disorder; Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia; Baraitser-Winter syndrome 1, 243310 for gene: ACTB Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ACTB was added gene: ACTB was added to Viral susceptibility. Sources: ESID Registry 20171117,Victorian Clinical Genetics Services,GRID V2.0,IUIS Classification December 2019,Expert Review Red,IUIS Classification February 2018 Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACTB were set to 32086639; 32048120; 10411937 Phenotypes for gene: ACTB were set to Congenital defects of phagocyte number or function; neutrophil dysfunction; Mental retardation, short stature; Actin beta deficiency (ACTB); Phagocytic disorder; Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia; Baraitser-Winter syndrome 1, 243310