Genes in panel
STRs in panel
Prev Next

COVID-19 research

Gene: AICDA

Green List (high evidence)

AICDA (activation induced cytidine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000111732
EnsemblGeneIds (GRCh37): ENSG00000111732
OMIM: 605257, Gene2Phenotype
AICDA is in 6 panels

6 reviews

Ivone Leong (Genomics England Curator)

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

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Louise Daugherty (Genomics England Curator)

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.

Olivia Niblock (Genomics England Curator)

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.

Sophie Hambleton (Newcastle University)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
Phenotypes
  • Hyper IgM syndrome with lymphoid hyperplasia
  • Primary Immune Deficiencies
  • Immunodeficiency with hyper-IgM, type 2, 605258
  • Bacterial infections, enlarged lymph nodes and germinal centers
  • Predominantly Antibody Deficiencies
  • Immunodeficiency with hyper-IgM, type 2
  • CSR defects and Hyper IgM (HIGM) syndromes
OMIM
605257
Clinvar variants
Variants in AICDA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Apr 2020, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

Source IUIS Classification December 2019 was added to AICDA. Mode of inheritance for gene AICDA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: AICDA was added gene: AICDA was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,A- or hypo-gammaglobulinaemia v1.25,IUIS Classification February 2018 Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AICDA were set to 27701145; 21700883; 12958596 Phenotypes for gene: AICDA were set to Hyper IgM syndrome with lymphoid hyperplasia; Primary Immune Deficiencies; Immunodeficiency with hyper-IgM, type 2, 605258; Bacterial infections, enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies; Immunodeficiency with hyper-IgM, type 2; CSR defects and Hyper IgM (HIGM) syndromes