1. Panels
  2. A- or hypo-gammaglobulinaemia
  3. AICDA
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A- or hypo-gammaglobulinaemia

Gene: AICDA

Green List (high evidence)
AICDA (activation induced cytidine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000111732
EnsemblGeneIds (GRCh37): ENSG00000111732
OMIM: 605257, Gene2Phenotype
AICDA is in 4 panels

2 reviews

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

Panel version: 1.13

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

Created: 6 Jan 2017, 3:49 p.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyper IgM syndrome with lymphoid hyperplasia
  • Immunodeficiency with hyper-IgM, type 2, 605258
  • Primary Immune Deficiencies
OMIM
605257
Clinvar variants
Variants in AICDA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Aug 2017, Gel status: 0

Upload gene information

Olivia Niblock (Genomics England Curator)

AICDA was added to A- or hypo-gammaglobulinaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services

15 Aug 2017, Gel status: 0

Set Phenotypes

Olivia Niblock (Genomics England Curator)

Phenotypes for gene AICDA were set to Hyper IgM syndrome with lymphoid hyperplasia;Immunodeficiency with hyper-IgM, type 2, 605258; Primary Immune Deficiencies

15 Aug 2017, Gel status: 0

Set Phenotypes

Olivia Niblock (Genomics England Curator)

Phenotypes for AICDA were set to Hyper IgM syndrome with lymphoid hyperplasia; Immunodeficiency with hyper-IgM, type 2, 605258

6 Jan 2017, Gel status: 0

Added New Source

Sophie Hambleton (Newcastle University)

AICDA was added to A- or hypo-gammaglobulinaemiapanel. Sources: Expert Review

6 Jan 2017, Gel status: 0

Created

Sophie Hambleton (Newcastle University)

AICDA was created by shamblet