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Primary immunodeficiency

Gene: SPI1

Amber List (moderate evidence)

SPI1 (Spi-1 proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000066336
EnsemblGeneIds (GRCh37): ENSG00000066336
OMIM: 165170, Gene2Phenotype
SPI1 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

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

Boaz Palterer (University of Florence)

Green List (high evidence)

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
(https://rupress.org/jem/article-abstract/218/7/e20201750/212070/Constrained-chromatin-accessibility-in-PU-1?redirectedFrom=fulltext)
Sources: Literature
Created: 6 May 2021, 5:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
agammaglobulinemia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Agammaglobulinemia
Tags
watchlist
OMIM
165170
Clinvar variants
Variants in SPI1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: spi1 has been classified as Amber List (Moderate Evidence).

4 Jun 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPI1 were changed from agammaglobulinemia to Agammaglobulinemia

4 Jun 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: SPI1.

6 May 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

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