Primary immunodeficiencyGene: SPI1
Comment on list classification: New gene added by Boaz Palterer. Sufficient number of unrelated cases (6) presenting a relevant phenotype, supported by some functional data (PMID: 33951726). However, only able to access the publication abstract at this time - Rating Amber with a watchlist tag until the full text becomes available (on 2022-01-05)
Created: 4 Jun 2021, 3:01 p.m. | Last Modified: 4 Jun 2021, 3:01 p.m.
Panel Version: 2.423
Carole le Coz et al. described 6 unrelated patients with agammaglobulinemia harboring a heterozygous mutation (four de novo, two unphased) of SPI1, the gene encoding PU.1.
The phenotype was functionally replicated by transfection of mutant PU.1
Created: 6 May 2021, 5:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: spi1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SPI1 were changed from agammaglobulinemia to Agammaglobulinemia
Tag watchlist tag was added to gene: SPI1.
gene: SPI1 was added gene: SPI1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: SPI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPI1 were set to 33951726 Phenotypes for gene: SPI1 were set to agammaglobulinemia Penetrance for gene: SPI1 were set to unknown Review for gene: SPI1 was set to GREEN