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Primary immunodeficiency or monogenic inflammatory bowel disease v8.3 AICDA Arina Puzriakova changed review comment from: Current literature strongly supports that heterozygous stop-gain variants are the primary variants linked to autosomal dominant forms of AICDA-related Hyper-IgM syndrome. These loss-of-function variants are well-documented to cause haploinsufficiency or a dominant-negative effect.

In contrast, missense variants lack robust evidence for pathogenicity in the context of dominant disease. Missense variants have only been reported in recessive cases, often with functional validation.

ClinGen only lists LOF variants associated with autosomal dominant form of Hyper-IgM syndrome Type 2 (https://search.clinicalgenome.org/CCID:004081).; to: Review based on feedback from Dr Julio Rodríguez López (Santiago Clinic Hospital CHUS, Spain):

Current literature strongly supports that heterozygous stop-gain variants are the primary variants linked to autosomal dominant forms of AICDA-related Hyper-IgM syndrome. These loss-of-function variants are well-documented to cause haploinsufficiency or a dominant-negative effect.

In contrast, missense variants lack robust evidence for pathogenicity in the context of dominant disease. Missense variants have only been reported in recessive cases, often with functional validation.

ClinGen only lists LOF variants associated with autosomal dominant form of Hyper-IgM syndrome Type 2 (https://search.clinicalgenome.org/CCID:004081).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.1 AICDA Arina Puzriakova commented on gene: AICDA: Current literature strongly supports that heterozygous stop-gain variants are the primary variants linked to autosomal dominant forms of AICDA-related Hyper-IgM syndrome. These loss-of-function variants are well-documented to cause haploinsufficiency or a dominant-negative effect.

In contrast, missense variants lack robust evidence for pathogenicity in the context of dominant disease. Missense variants have only been reported in recessive cases, often with functional validation.

ClinGen only lists LOF variants associated with autosomal dominant form of Hyper-IgM syndrome Type 2 (https://search.clinicalgenome.org/CCID:004081).
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 AICDA Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 AICDA Sarah Leigh reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 AICDA Achchuthan Shanmugasundram Mode of inheritance for gene AICDA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 AICDA Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'biallelic' to 'both mono- and biallelic' at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 AICDA Arina Puzriakova Mode of inheritance for gene: AICDA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.150 AICDA Arina Puzriakova Publications for gene: AICDA were set to 12958596; 21700883; 27701145
Primary immunodeficiency or monogenic inflammatory bowel disease v4.149 AICDA Arina Puzriakova Tag recurrent-variant tag was added to gene: AICDA.
Tag Q4_23_MOI tag was added to gene: AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.149 AICDA Arina Puzriakova reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35748970, 15893695, 35271747; Phenotypes: Immunodeficiency with hyper-IgM, type 2, OMIM:605258; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.149 AICDA Arina Puzriakova Phenotypes for gene: AICDA were changed from Immunodeficiency with hyper-IgM, type 2; Hyper IgM syndrome with lymphoid hyperplasia; Immunodeficiency with hyper-IgM, type 2, 605258; Primary Immune Deficiencies; CSR defects and Hyper IgM (HIGM) syndromes; Bacterial infections, enlarged lymph nodes and germinal centers; Predominantly Antibody Deficiencies to Immunodeficiency with hyper-IgM, type 2, OMIM:605258
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Louise Daugherty commented on gene: AICDA: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Louise Daugherty commented on gene: AICDA: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Kimberly Gilmour reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 AICDA Tracy Briggs reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 AICDA Louise Daugherty Source NHS GMS was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 AICDA Louise Daugherty Source North West GLH was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 AICDA Louise Daugherty Source London North GLH was added to AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease AICDA Louise Daugherty commented on gene: AICDA
Primary immunodeficiency or monogenic inflammatory bowel disease AICDA Louise Daugherty marked gene: AICDA as ready
Primary immunodeficiency or monogenic inflammatory bowel disease AICDA Louise Daugherty commented on AICDA
Primary immunodeficiency or monogenic inflammatory bowel disease AICDA Louise Daugherty commented on AICDA
Primary immunodeficiency or monogenic inflammatory bowel disease AICDA Louise Daugherty reviewed AICDA
Primary immunodeficiency or monogenic inflammatory bowel disease AICDA Louise Daugherty Added gene to panel