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Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova Tag Q4_21_rating was removed from gene: DEF6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 DEF6 Arina Puzriakova commented on gene: DEF6: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 DEF6 Arina Puzriakova Source Expert Review Green was added to DEF6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Tag Q4_21_rating tag was added to gene: DEF6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Classified gene: DEF6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Added comment: Comment on list classification: There are now at least 3 unrelated cases of immunodeficiency associated with different biallelic variants in this gene (PMID:31308374; 32562707). DEF6 is also associated with a relevant phenotype in OMIM (MIM# 619573) and should be promoted to Green at the next GMS panel update (tagged).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.488 DEF6 Arina Puzriakova Gene: def6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.487 DEF6 Arina Puzriakova Publications for gene: DEF6 were set to 32086639; 31308374; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.486 DEF6 Arina Puzriakova Phenotypes for gene: DEF6 were changed from DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation to Immunodeficiency 87 and autoimmunity, OMIM:619573; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
Primary immunodeficiency or monogenic inflammatory bowel disease v2.480 DEF6 Dmitrijs Rots reviewed gene: DEF6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32562707; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.131 DEF6 Catherine Snow Classified gene: DEF6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.131 DEF6 Catherine Snow Added comment: Comment on list classification: Comment on list classification: Promoted from Red to Amber based on expert review. Insufficient individuals for DEF6 to be rated as Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.131 DEF6 Catherine Snow Gene: def6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 DEF6 Zornitza Stark reviewed gene: DEF6: Rating: AMBER; Mode of pathogenicity: None; Publications: 31308374; Phenotypes: Systemic autoimmunity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 DEF6 Louise Daugherty reviewed gene: DEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: 31308374; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 DEF6 Louise Daugherty Publications for gene DEF6 were updated from 32086639; 32048120 to 32086639; 31308374; 32048120
Primary immunodeficiency or monogenic inflammatory bowel disease v2.18 DEF6 Louise Daugherty Publications for gene: DEF6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.17 DEF6 Louise Daugherty Phenotypes for gene: DEF6 were changed from to DEF6 deficiency; Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections; Diseases of Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v2.16 DEF6 Louise Daugherty Mode of inheritance for gene: DEF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.15 DEF6 Louise Daugherty gene: DEF6 was added
gene: DEF6 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019
Mode of inheritance for gene: DEF6 was set to