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Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 ALPK1 Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: ALPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 ALPK1 Arina Puzriakova edited their review of gene: ALPK1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 ALPK1 Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK1.
Source NHS GMS was added to ALPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.23 ALPK1 Sarah Leigh Publications for gene: ALPK1 were set to 35868845
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ALPK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Classified gene: ALPK1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Added comment: Comment on list classification: This gene is associated with a phenotype in OMIM and Gene2Phenotype (Strong). There is enough evidence to support a gene-disease association - recurrent infections present in some. This gene should be rated Green at the next review.

PMID: 35868845 - 27 patients with ROSAH syndrome, in vitro assays and systematic analysis demonstrated inflammatory features establishing ROSAH as autoinflammatory disease.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.3 ALPK1 Arina Puzriakova Gene: alpk1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.2 ALPK1 Arina Puzriakova Phenotypes for gene: ALPK1 were changed from ROSAH syndrome to ROSAH syndrome, OMIM:614979
Primary immunodeficiency or monogenic inflammatory bowel disease v2.577 ALPK1 Dmitrijs Rots gene: ALPK1 was added
gene: ALPK1 was added to Primary immunodeficiency. Sources: Literature
Mode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALPK1 were set to 35868845
Phenotypes for gene: ALPK1 were set to ROSAH syndrome
Penetrance for gene: ALPK1 were set to unknown
Mode of pathogenicity for gene: ALPK1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ALPK1 was set to GREEN
Added comment: GoF missense variants in ALPK1 cause autoinflammatory condition ROSAH, with most individuals having inflammation, immune therapy available.
Sources: Literature