AICDA

activation induced cytidine deaminase
OMIM: 605257, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red AICDA in Cataract


Level 2: Ophthalmological disorders
Version 1.0

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2 605258

Green AICDA in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green AICDA in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2, MIM# 605258

Green AICDA in Predominantly Antibody Deficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2, MIM# 605258

Green AICDA in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2, MIM# 605258
Tags
  • treatable
  • immunological

Green AICDA in Nucleotide metabolism disorders


Level 2: Metabolic disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • hyper-IgM syndrome type 2 MONDO:0011528
  • Disorders of ectonucleotide and nucleic acid metabolism