Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: ACTB

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

• 10411937

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.