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Primary immunodeficiency

Gene: ZNFX1

Amber List (moderate evidence)

ZNFX1 (zinc finger NFX1-type containing 1)
EnsemblGeneIds (GRCh38): ENSG00000124201
EnsemblGeneIds (GRCh37): ENSG00000124201
ZNFX1 is in 1 panel

3 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

15 individuals from 8 families reported with multi-system inflammation and susceptibility to viral infections.

In addition, four indviduals from two unrelated kindreds reported with intermittent monocytosis and mycobacterial disease, including bacillus Calmette-Guérin-osis and disseminated tuberculosis.
Created: 10 May 2021, 10:33 a.m. | Last Modified: 10 May 2021, 10:33 a.m.
Panel Version: 2.421

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multisystem inflammation; susceptibility to viral infections

Publications

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by Boaz Palterer. Sufficient number of unrelated cases (10 - PMIDs: 33876776; 33872655) with immunopathology and biallelic variants in this gene to rate as Green at the next GMS panel update.
Created: 27 Apr 2021, 10:43 a.m. | Last Modified: 27 Apr 2021, 10:43 a.m.
Panel Version: 2.416
- Voyer et al. 2021 (PMID: 33876776) - Three patients from two unrelated kindreds with intermittent monocytosis and mycobacterial disease, including bacillus Calmette–Guérin-osis and disseminated tuberculosis, and without any known inborn error of IFN-γ. Both families were homozygous for different pLoF ZNFX1 variants (c.2876C>G, p.S959* and c.4815_4818del, p.E1606Rfs*10, respectively).

- Vavassori et al. 2021 (PMID: 33872655) - 13 patients from 8 families with immunodeficiency characterised by severe viral infections and systemic inflammatory disease, associated with biallelic variants in the ZNFX1 gene. Studies using patient-derived primary cells showed deregulated expression of interferon-stimulated genes and impaired clearance of virus infections by monocytes.
Created: 27 Apr 2021, 10:39 a.m. | Last Modified: 27 Apr 2021, 10:39 a.m.
Panel Version: 2.414

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Boaz Palterer (University of Florence)

Green List (high evidence)

Multisystem Inflammation and Susceptibility to Viral infections in Human ZNFX1 Deficiency
15 patients from 8 families with an autosomal recessive immunodeficiency characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic-lymphohistiocytosis-like disease, early-onset seizures, as well as renal and lung disease.
https://www.jacionline.org/article/S0091-6749(21)00613-8/fulltext
Created: 20 Apr 2021, 7:51 a.m. | Last Modified: 20 Apr 2021, 7:51 a.m.
Panel Version: 2.413
Le Voyer et al. described two patients from two unrelated kindreds with homozygous LOF variants in the ZNFX1 gene associated with mendelian susceptibility to mycobacterial disease (MSMD) and monocytosis. ( https://www.pnas.org/content/118/15/e2102804118 )
Sources: Literature
Created: 10 Apr 2021, 7:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multisystem inflammatory disoder; viral infections; HLH

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • mendelian susceptibility to mycobacterial disease
  • MSMD
  • monocytosis.
Tags
Q2_21_rating
Clinvar variants
Variants in ZNFX1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: znfx1 has been classified as Amber List (Moderate Evidence).

27 Apr 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ZNFX1 were set to

27 Apr 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: ZNFX1.

10 Apr 2021, Gel status: 0

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

Boaz Palterer (University of Florence)

gene: ZNFX1 was added gene: ZNFX1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: ZNFX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNFX1 were set to mendelian susceptibility to mycobacterial disease; MSMD; monocytosis. Penetrance for gene: ZNFX1 were set to unknown Review for gene: ZNFX1 was set to RED