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Primary immunodeficiency

Gene: FNIP1

Amber List (moderate evidence)

FNIP1 (folliculin interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000217128
EnsemblGeneIds (GRCh37): ENSG00000217128
OMIM: 610594, Gene2Phenotype
FNIP1 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Boaz Palterer (University of Florence)

I don't know

Sources: Literature
Created: 11 Sep 2020, 3 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary Immunodeficiency; Agammaglobulinemia; Hypertrophic Cardiomyopathy; Neutropenia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Primary Immunodeficiency
  • Agammaglobulinemia
  • Hypertrophic Cardiomyopathy
  • Neutropenia
Tags
for-review
OMIM
610594
Clinvar variants
Variants in FNIP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FNIP1 were set to 32905580

18 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: fnip1 has been classified as Amber List (Moderate Evidence).

18 Sep 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: FNIP1.

11 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Boaz Palterer (University of Florence)

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