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Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova Tag Q3_21_expert_review was removed from gene: KDM6A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KDM6A Arina Puzriakova commented on gene: KDM6A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KDM6A Arina Puzriakova Source Expert Review Green was added to KDM6A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.476 KDM6A Arina Puzriakova Publications for gene: KDM6A were set to 25142838; 15523604; 32048120; 25546742; 15887282; 32086639; 26411453; 22197486; 23076834; 31363182
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 KDM6A Dmitrijs Rots changed review comment from: Immunodeficiency is a well-known and common feature of KS. Recent study shows:
"Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively"; to: Immunodeficiency is a well-known and common feature of KS. Recent study shows:
"Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively"

The gene is also included in Inborn errors of immunity classification: PMID 31953710
Primary immunodeficiency or monogenic inflammatory bowel disease v2.467 KDM6A Arina Puzriakova Phenotypes for gene: KDM6A were changed from Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Kabuki Syndrome 2 due to KDM6A deficiency; Combined immunodeficiencies with associated or syndromic features to Kabuki syndrome 2, OMIM:300867; Recurrent infections (otitis media, pneumonia); Autoimmunity; Combined immunodeficiencies with associated or syndromic features
Primary immunodeficiency or monogenic inflammatory bowel disease v2.466 KDM6A Arina Puzriakova Publications for gene: KDM6A were set to 25142838; 15523604; 32048120; 25546742; 15887282; 32086639; 26411453; 22197486; 23076834
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KDM6A Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: KDM6A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KDM6A Arina Puzriakova commented on gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KDM6A Dmitrijs Rots Deleted their comment
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KDM6A Dmitrijs Rots edited their review of gene: KDM6A: Added comment: Immunodeficiency is a well-known and common feature of KS. Recent study shows:
"Overall, 44.1% (78/177) and 58.2% (46/79) of KS individuals exhibited infection susceptibility and hypogammaglobulinemia, respectively"; Changed publications to: PMID: 31363182; Changed phenotypes to: Hypogammaglobulinemia, intellectual disability, short stature
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KDM6A Dmitrijs Rots reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34326534; Phenotypes: Autoinflammatory, inflammatory bowel disease, ulcers; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 KDM6A Eleanor Williams Source Other was added to KDM6A.
Publications for gene KDM6A were updated from 25546742; 25142838; 32048120; 15887282; 15523604; 26411453; 32086639 to 25142838; 15523604; 32048120; 25546742; 15887282; 32086639; 26411453; 22197486; 23076834
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 KDM6A Eleanor Williams reviewed gene: KDM6A: Rating: ; Mode of pathogenicity: ; Publications: 23076834, 22197486; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KDM6A Louise Daugherty Source IUIS Classification December 2019 was added to KDM6A.
Added phenotypes Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present; Combined immunodeficiencies with associated or syndromic features for gene: KDM6A
Publications for gene KDM6A were updated from 26411453; 25546742; 15887282; 25142838; 15523604 to 25546742; 25142838; 32048120; 15887282; 15523604; 26411453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty marked gene: KDM6A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty commented on gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty reviewed gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Sophie Hambleton reviewed gene: KDM6A
Primary immunodeficiency or monogenic inflammatory bowel disease KDM6A Louise Daugherty Added gene to panel