Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: ACTB
One account of neutrophil dysfunction but the major features are those of a profound neurodevelopmental-dysmorphological disorderCreated: 18 Jun 2018, 4:11 p.m.
Publications
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 MotilityCreated: 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 reviewCreated: 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 evidenceCreated: 30 Apr 2018, 2:50 p.m.
Comment on phenotypes: added more relevant PID phenotypes associated to this gene PMID: 24117828Created: 30 Apr 2018, 2:38 p.m.
Comment on phenotypes: added ESID main category phenotype Phagocytic disorderCreated: 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: ENST00000331789Created: 17 Apr 2018, 12:12 p.m.
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
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.
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
IUIS Classification February 2018 was added to ACTB. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to ACTB. Panel: Primary immunodeficiency disorders
Gene: actb has been classified as Red List (Low Evidence).
Gene: actb has been classified as Red List (Low Evidence).
Publications for gene: ACTB were set to 10411937
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
Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; Phagocytic disorder; Actin beta deficiency (ACTB); neutrophil dysfunction
Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; Phagocytic disorder; Actin beta deficiency (ACTB)
Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; Phagocytic disorder; Actin beta deficiency (ACTB)
Phenotypes for ACTB were set to Actin beta deficiency (ACTB)
Phenotypes for ACTB were set to Baraitser-Winter syndrome 1, 243310; BRWS; Actin beta deficiency (ACTB)
Expert Review Amber was added to ACTB. Panel: Primary immunodeficiency disorders
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)
Phenotypes for gene ACTB were set to Baraitser-Winter syndrome 1
ACTB was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
ACTB was created by Louise Daugherty