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Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2D.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2D Arina Puzriakova commented on gene: KMT2D: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2D Arina Puzriakova Source Expert Review Green was added to KMT2D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KMT2D Arina Puzriakova Tag Q3_21_rating tag was added to gene: KMT2D.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.465 KMT2D Arina Puzriakova Publications for gene: KMT2D were set to 25142838; 15523604; 21671394; 32048120; 15887282; 21607748; 32086639; 23913813; 26411453
Primary immunodeficiency or monogenic inflammatory bowel disease v2.464 KMT2D Arina Puzriakova Classified gene: KMT2D as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.464 KMT2D Arina Puzriakova Added comment: Comment on list classification: Immunopathological manifestations are seen in ~50% of cases with KMT2D-related Kabuki syndrome. There is sufficient evidence to support this gene-disease association and therefore this gene should be promoted to Green status at the next GMS panel update.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.464 KMT2D Arina Puzriakova Gene: kmt2d has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.463 KMT2D Arina Puzriakova Phenotypes for gene: KMT2D were changed from Kabuki syndrome 1, 147920; 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 to Kabuki syndrome 1, OMIM:147920; Hypogammaglobulinemia; Recurrent infections (otitis media, pneumonia); Autoimmunity
Primary immunodeficiency or monogenic inflammatory bowel disease v2.458 KMT2D Dmitrijs Rots reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31363182; Phenotypes: Hypogammaglobulinemia, intellectual disability, short stature; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.209 KMT2D Eleanor Williams Source Other was added to KMT2D.
Publications for gene KMT2D were updated from 25142838; 32048120; 15887282; 15523604; 26411453; 32086639 to 25142838; 15523604; 21671394; 32048120; 15887282; 21607748; 32086639; 23913813; 26411453
Primary immunodeficiency or monogenic inflammatory bowel disease v2.208 KMT2D Eleanor Williams reviewed gene: KMT2D: Rating: ; Mode of pathogenicity: ; Publications: 23913813, 21671394, 21607748; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KMT2D Louise Daugherty Source IUIS Classification December 2019 was added to KMT2D.
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: KMT2D
Publications for gene KMT2D were updated from 15887282; 25142838; 15523604; 26411453 to 25142838; 32048120; 15887282; 15523604; 26411453; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty marked gene: KMT2D as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty commented on gene: KMT2D
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty reviewed gene: KMT2D
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Sophie Hambleton reviewed gene: KMT2D
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2D Louise Daugherty Added gene to panel