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STRs in panel
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Primary immunodeficiency

Gene: ACTB

Red List (low evidence)

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

2 reviews

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
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Actin beta deficiency (ACTB)
  • Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
  • neutrophil dysfunction
  • Phagocytic disorder
  • Mental retardation, short stature
  • Baraitser-Winter syndrome 1, 243310
  • Congenital defects of phagocyte number or function
OMIM
102630
Clinvar variants
Variants in ACTB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to ACTB. Mode of inheritance for gene ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Mental retardation, short stature; Congenital defects of phagocyte number or function for gene: ACTB Publications for gene ACTB were updated from 10411937 to 32048120; 10411937; 32086639

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ACTB were set to Baraitser-Winter syndrome 1, 243310, Phagocytic disorder, Actin beta deficiency (ACTB), neutrophil dysfunction, Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia, Mental retardation, short stature, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to ACTB. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to ACTB. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: actb has been classified as Red List (Low Evidence).

20 Jun 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: actb has been classified as Red List (Low Evidence).

20 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ACTB were set to 10411937

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; Phagocytic disorder; Actin beta deficiency (ACTB); neutrophil dysfunction; Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; Phagocytic disorder; Actin beta deficiency (ACTB); neutrophil dysfunction

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; Phagocytic disorder; Actin beta deficiency (ACTB)

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; Phagocytic disorder; Actin beta deficiency (ACTB)

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACTB were set to Actin beta deficiency (ACTB)

30 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; BRWS; Actin beta deficiency (ACTB)

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to ACTB. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to ACTB. Panel: Primary immunodeficiency disorders Phenotypes for gene ACTB were set to Baraitser-Winter syndrome 1, Actin beta deficiency (ACTB)

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene ACTB were set to Baraitser-Winter syndrome 1

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

ACTB was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

ACTB was created by Louise Daugherty