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  2. Gastrointestinal epithelial barrier disorders
  3. AICDA
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Gastrointestinal epithelial barrier disorders

Gene: AICDA

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

3 reviews

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:30 a.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.122

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Rated green by Neil Shah (GOSH).
Created: 10 Oct 2016, 1:15 p.m.
Created: 10 Oct 2016, 1:15 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.117

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. At least nine variants reported.
Created: 5 Sep 2016, 6:46 a.m.
Created: 2 Sep 2016, 2:35 p.m.

Panel version: Imported from Infantile enterocolitis & monogenic inflammatory bowel disease panel version 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2, OMIM:605258
OMIM
605257
Clinvar variants
Variants in AICDA
Penetrance
None
Panels with this gene

History Filter Activity

4 Jan 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AICDA were changed from Early Onset Inflammatory Bowel Disease; Immunodeficiency with hyper-IgM, type 2 605258 to Immunodeficiency with hyper-IgM, type 2, OMIM:605258

25 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Olivia Niblock (Genomics England Curator)

Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018

17 Apr 2018, Gel status: 1

Set penetrance

Olivia Niblock (Genomics England Curator)

Phenotypes for gene AICDA were set to Early Onset Inflammatory Bowel Disease, Immunodeficiency with hyper-IgM, type 2 605258

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

AICDA was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

AICDA was created by Olivia Niblock