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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | FNIP1 | Arina Puzriakova Tag for-review was removed from gene: FNIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | FNIP1 | Arina Puzriakova commented on gene: FNIP1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | FNIP1 |
Arina Puzriakova Source Expert Review Green was added to FNIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.192 | FNIP1 | Arina Puzriakova Publications for gene: FNIP1 were set to 32905580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.191 | FNIP1 | Arina Puzriakova Classified gene: FNIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.191 | FNIP1 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - at least 5 unrelated cases with immunodeficiency associated with biallelic FNIP1 variants, as well as supportive functional data and animal model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.191 | FNIP1 | Arina Puzriakova Gene: fnip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 | FNIP1 | Arina Puzriakova Tag for-review tag was added to gene: FNIP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.190 | FNIP1 | Arina Puzriakova reviewed gene: FNIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32181500, 32905580; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | FNIP1 |
Boaz Palterer gene: FNIP1 was added gene: FNIP1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: FNIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FNIP1 were set to 32905580 Phenotypes for gene: FNIP1 were set to Primary Immunodeficiency; Agammaglobulinemia; Hypertrophic Cardiomyopathy; Neutropenia Penetrance for gene: FNIP1 were set to unknown Review for gene: FNIP1 was set to AMBER Added comment: Sources: Literature |
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