AICDA

activation induced cytidine deaminase
OMIM: 605257, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green AICDA in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.44	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Immunodeficiency with hyper-IgM, type 2, OMIM:605258
Red AICDA in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Phenotypes Immunodeficiency with hyper-IgM, type 2, OMIM:605258
Green AICDA in COVID-19 research Level 2: Viral research Version 1.142	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources IUIS Classification December 2019 IUIS Classification February 2018 A- or hypo-gammaglobulinaemia v1.25 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Immunodeficiency with hyper-IgM, type 2, OMIM:605258 Hyper IgM syndrome with lymphoid hyperplasia Primary Immune Deficiencies Bacterial infections, enlarged lymph nodes and germinal centers Predominantly Antibody Deficiencies Immunodeficiency with hyper-IgM, type 2 CSR defects and Hyper IgM (HIGM) syndromes
Green AICDA in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 A- or hypo-gammaglobulinaemia v1.25 Phenotypes Immunodeficiency with hyper-IgM, type 2, OMIM:605258 Tags recurrent-variant Q4_23_MOI
Green AICDA in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency with hyper-IgM, type 2, 605258