Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: AICDA

Green List (high evidence)

AICDA (activation induced cytidine deaminase)
EnsemblGeneIds (GRCh38): ENSG00000111732
EnsemblGeneIds (GRCh37): ENSG00000111732
OMIM: 605257, Gene2Phenotype
AICDA is in 5 panels

3 reviews

Neil shah (GOSH)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2 605258
OMIM
605257
Clinvar variants
Variants in AICDA
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

10 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

2 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

AICDA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene AICDA were set to Immunodeficiency with hyper-IgM, type 2 605258

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AICDA was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AICDA was created by ellenmcdonagh