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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) |
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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 |
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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 |
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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 |
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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 |
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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 |