Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: FNIP1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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.Created: 18 Sep 2020, 12:02 p.m. | Last Modified: 18 Sep 2020, 12:02 p.m.
Panel Version: 2.191
- PMID: 32181500 (2020) - Three patients from two independent consanguineous families with homozygous variants (c.3353G>A, p.Ser1118Asn and c.1289delA, p.His430Profs7*) in the FNIP1 gene. Both variants segregated with the disease phenotype in each family. Clinically, patients presented with combined immunodeficiency, cardiac findings (hypertrophic cardiomyopathy, Wolff‐Parkinson‐White syndrome), and myopathy of skeletal muscles with motor DD. Authors note phenotypic overlap with the murine model of FNIP1 deficiency, but no functional analyses of the variants or patient cells were performed.
- PMID: 32905580 (2020) - Three cases from unrelated families, all harbouring novel biallelic variants in FNIP1. Clinical manifestations in all patients include hypertrophic cardiomyopathy, severe and/or recurrent infections, absent circulating B-cells, and agammaglobulinemia; as well as either severe or intermittent neutropenia in two cases. Functional studies showed impairment of B-cell metabolism, including disruptions to mitochondrial numbers/activity and the PI3K/AKT pathway.Created: 18 Sep 2020, 11:58 a.m. | Last Modified: 18 Sep 2020, 11:58 a.m.
Panel Version: 2.190
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Sources: LiteratureCreated: 11 Sep 2020, 3 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Immunodeficiency; Agammaglobulinemia; Hypertrophic Cardiomyopathy; Neutropenia
Publications
Tag for-review was removed from gene: FNIP1.
Source Expert Review Green was added to FNIP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: FNIP1 were set to 32905580
Gene: fnip1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: FNIP1.
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