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Primary immunodeficiency or monogenic inflammatory bowel disease v4.80 | SPI1 | Achchuthan Shanmugasundram Phenotypes for gene: SPI1 were changed from Agammaglobulinemia to Agammaglobulinemia 10, autosomal dominant, OMIM:619707 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.79 | SPI1 | Achchuthan Shanmugasundram Mode of inheritance for gene: SPI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 | SPI1 |
Achchuthan Shanmugasundram 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. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 | SPI1 | Achchuthan Shanmugasundram Classified gene: SPI1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 | SPI1 |
Achchuthan Shanmugasundram Added comment: 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. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.78 | SPI1 | Achchuthan Shanmugasundram Gene: spi1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.35 | SPI1 | Hannah Knight reviewed gene: SPI1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33951726; Phenotypes: Agammaglobulinemia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 | SPI1 | Arina Puzriakova Classified gene: SPI1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 | SPI1 | Arina Puzriakova Added comment: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.423 | SPI1 | Arina Puzriakova Gene: spi1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.422 | SPI1 | Arina Puzriakova Phenotypes for gene: SPI1 were changed from agammaglobulinemia to Agammaglobulinemia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.421 | SPI1 | Arina Puzriakova Tag watchlist tag was added to gene: SPI1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.419 | SPI1 |
Boaz Palterer 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 Added comment: 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 |