Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SPI1Comment on list classification: As reviewed by Hannah Knight, PMID:33951726 is now publicly available online and have six unrelated cases and some functional data in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS review.
The 'watchlist' tag has now been removed as this gene is now recommended for promotion to green rating.Created: 1 Nov 2023, 9:15 a.m. | Last Modified: 1 Nov 2023, 9:15 a.m.
Panel Version: 4.78
Paper now available to view online, but not reviewed on PanelApp since 2021. Six families reported with this condition.Created: 10 Oct 2023, 3:25 p.m. | Last Modified: 10 Oct 2023, 3:25 p.m.
Panel Version: 4.35
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Agammaglobulinemia 10, autosomal dominant
Publications
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
(https://rupress.org/jem/article-abstract/218/7/e20201750/212070/Constrained-chromatin-accessibility-in-PU-1?redirectedFrom=fulltext)
Sources: LiteratureCreated: 6 May 2021, 5:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
agammaglobulinemia
Publications
Phenotypes for gene: SPI1 were changed from Agammaglobulinemia to Agammaglobulinemia 10, autosomal dominant, OMIM:619707
Mode of inheritance for gene: SPI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag watchlist was removed from gene: SPI1. Tag Q4_23_promote_green tag was added to gene: SPI1. Tag Q4_23_NHS_review tag was added to gene: SPI1.
Gene: spi1 has been classified as Amber List (Moderate Evidence).
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