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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova Tag for-review was removed from gene: NCKAP1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 NCKAP1L Arina Puzriakova commented on gene: NCKAP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 NCKAP1L Arina Puzriakova Source Expert Review Green was added to NCKAP1L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 NCKAP1L Zornitza Stark edited their review of gene: NCKAP1L: Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 NCKAP1L Arina Puzriakova Publications for gene: NCKAP1L were set to 32647003
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 NCKAP1L Arina Puzriakova Classified gene: NCKAP1L as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 NCKAP1L Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least six unrelated families with distinct variants in this gene presenting the relevant phenotype.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 NCKAP1L Arina Puzriakova Gene: nckap1l has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 NCKAP1L Arina Puzriakova Tag for-review tag was added to gene: NCKAP1L.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 NCKAP1L Arina Puzriakova reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 32647003, 32766723; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 NCKAP1L Zornitza Stark gene: NCKAP1L was added
gene: NCKAP1L was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCKAP1L were set to 32647003
Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation
gene: NCKAP1L was marked as current diagnostic
Added comment: 5 individuals from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed.
Sources: Literature