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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:13203
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2
OMIM
605257
Clinvar variants
Variants in AICDA
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to AICDA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to AICDA. Added phenotypes Immunodeficiency with hyper-IgM, type 2 for gene: AICDA Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency with hyper-IgM, type 2 for gene: AICDA

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency with hyper-IgM, type 2 for gene: AICDA

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to AICDA. Added phenotypes Immunodeficiency with hyper-IgM, type 2 for gene: AICDA Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: AICDA was added gene: AICDA was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal