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Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova Tag Q3_21_rating was removed from gene: PI4KA.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.532 PI4KA Arina Puzriakova commented on gene: PI4KA
Primary immunodeficiency or monogenic inflammatory bowel disease v2.531 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.481 PI4KA Ivone Leong commented on gene: PI4KA: There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.

Review by Sophie Hambleton (Newcastle University):

"The immunological abnormalities in PI4KA def are obviously rather variable and a slight side-show to the primary GI and neurologic pathology – however that is a detail that should come out when any putative case is reviewed in detail so I would include this as a “CID with associated or syndromic features” on the same basis as TTC7A"
Primary immunodeficiency or monogenic inflammatory bowel disease v2.481 PI4KA Ivone Leong Entity copied from Ataxia and cerebellar anomalies - narrow panel v2.243
Primary immunodeficiency or monogenic inflammatory bowel disease v2.481 PI4KA Ivone Leong gene: PI4KA was added
gene: PI4KA was added to Primary immunodeficiency. Sources: Expert Review Amber
Q3_21_rating tags were added to gene: PI4KA.
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 25855803; 34415322; 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531