COVID-19 research

Gene: AICDA

Green List (high evidence)

IUIS: AID deficiency. Inheritance - AR (causes IgG and IgA decreased, IgM increased; normal memory B cells but lacking somatic hypermutationand. Associated with bacterial infections, enlarged lymph nodes and germinal centers; autoimmunity), AD (causes IgG absent or decreased, IgA undetected, IgM increased; normal memory. B cells with intact somatic hypermutation. Associated with bacterial infections, enlarged lymph nodes and germinal centers. Mutations uniquely localize to the nuclear export signal.)

Created: 15 Apr 2020, 12:09 p.m. | Last Modified: 15 Apr 2020, 12:09 p.m.

Panel Version: 0.103

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• 32086639
• 32048120

Green List (high evidence)

agree with green gene

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

YES- this is covered on our targeted exome

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.

Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.

Panel Version: 1.94

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): AICDA .PanelApp HGNC gene symbol check: AICDA . IUIS Disease: AID deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Bacterial infections, enlarged lymph nodes and germinal centers. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM

Created: 2 Jul 2018, 10:35 a.m.

Original metadata downloaded from ESID Registry. ESID_Gene_original: AID, PanelApp HGNC gene symbol check: AICDA, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Class switch recombination defects (CSR) / HIGM syndromes / CSR defects and Hyper IgM (HIGM) syndromes

Created: 17 Apr 2018, 12:29 p.m.

Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: AICDA, GRID_Gene_Symbol: AICDA, GRID_Transcript_ENS_Community submitted: ENST00000229335, GRID_Transcript_RefSeq: NM_020661.2, GRID_Transcript_ENS_used_on_Production: ENST00000229335

Created: 17 Apr 2018, 12:12 p.m.

Comment on list classification: After searching the four sources (UKGTN, Illumina, Radboud and Emory), we have decided that there is a high level of evidence for this gene.

Created: 15 Aug 2017, 12:29 p.m.

Green List (high evidence)

OMIM 605257

Created: 6 Jan 2017, 3:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyper IgM syndrome with lymphoid hyperplasia

Publications

• 11007475
• 21700883
• 27701145