Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: SPI1EnsemblGeneIds (GRCh38): ENSG00000066336
EnsemblGeneIds (GRCh37): ENSG00000066336
OMIM: 165170, Gene2Phenotype
SPI1 is in 1 panel
5 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.
Panel Version: 5.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
Comment 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
Hannah Knight (NIHR BioResource - University of Cambridge)
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
- PMID: 33951726
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)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Agammaglobulinemia 10, autosomal dominant, OMIM:619707
- OMIM
- 165170
- Clinvar variants
- Variants in SPI1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: SPI1. Tag Q4_23_NHS_review was removed from gene: SPI1.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to SPI1. Source Expert Review Green was added to SPI1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SPI1 were changed from Agammaglobulinemia to Agammaglobulinemia 10, autosomal dominant, OMIM:619707
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: SPI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Removed Tag, Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)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.
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: spi1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: spi1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SPI1 were changed from agammaglobulinemia to Agammaglobulinemia
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to gene: SPI1.
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