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Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova Tag Q3_21_rating was removed from gene: KMT2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 KMT2A Arina Puzriakova commented on gene: KMT2A: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 KMT2A Arina Puzriakova Source Expert Review Green was added to KMT2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.475 KMT2A Arina Puzriakova Classified gene: KMT2A as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.475 KMT2A Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is enough evidence to promote to Green at the next GMS panel update.

Immune dysfunction, including early-onset CVID and recurrent infections, have been reported in multiple individuals with Wiedemann-Steiner syndrome. Immunopathology can be a presenting feature, and as there are sufficient unrelated cases with this phenotype, this gene should be promoted to Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.475 KMT2A Arina Puzriakova Gene: kmt2a has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.474 KMT2A Arina Puzriakova Publications for gene: KMT2A were set to 32048120; 27320412; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.473 KMT2A Arina Puzriakova Tag Q3_21_rating tag was added to gene: KMT2A.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.473 KMT2A Arina Puzriakova Phenotypes for gene: KMT2A were changed from Wiedemann-Steiner syndrome with Congenital immunodeficiency; Unclassified antibody deficiency; Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability; Combined immunodeficiencies with associated or syndromic features to Wiedemann-Steiner syndrome, OMIM:605130
Primary immunodeficiency or monogenic inflammatory bowel disease v2.468 KMT2A Dmitrijs Rots reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33783954, 28623346, 27320412; Phenotypes: Hypogammaglobulinemia, intellectual disability, hypertrichosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 KMT2A Louise Daugherty Source IUIS Classification December 2019 was added to KMT2A.
Added phenotypes Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability; Combined immunodeficiencies with associated or syndromic features for gene: KMT2A
Publications for gene KMT2A were updated from 27320412 to 32048120; 27320412; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2A Louise Daugherty marked gene: KMT2A as ready
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2A Louise Daugherty commented on gene: KMT2A
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2A Sophie Hambleton reviewed gene: KMT2A
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2A Louise Daugherty reviewed KMT2A
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2A Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease KMT2A Louise Daugherty Added gene to panel