Genes in panel
STRs in panel
Prev Next

COVID-19 research


Amber List (moderate evidence)

IVNS1ABP (influenza virus NS1A binding protein)
EnsemblGeneIds (GRCh38): ENSG00000116679
EnsemblGeneIds (GRCh37): ENSG00000116679
OMIM: 609209, Gene2Phenotype
IVNS1ABP is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

PMID: 32499645 (2020) - Three unrelated families with LOF variants (1 intragenic deletion, 2 distinct nonsense variants) in the IVNS1ABP gene. All affected patients presented with an immunologic disorder characterised by severe recurrent cutaneous warts on the hands, feet, and face. Additional variable features of immunodeficiency and autoinflammation included recurrent infections, colitis, and retinal vasculitis. Laboratory studies showed that all variant carriers exhibited low CD4+ T cells and numbers of total T cells and B cells towards the lower limit of the normal range. Western blot analysis showed a ~50% reduction of IVNS1ABP protein in patient peripheral blood cells compared to control individuals, consistent with haploinsuffiency.

In kindred A, the mother of the proband also carried the variants - she did show a low CD4+ T cell and CD19+ B cell count; however, she did not have a history of infection. Therefore, the possibility of incomplete penetrance should be considered. In kindred B, the variant was not present in the unaffected father or brother; the mother was not available for genetic investigation. In kindred C, neither parent was available for investigation.
Created: 10 Aug 2020, 2:42 p.m. | Last Modified: 10 Aug 2020, 2:42 p.m.
Panel Version: 1.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Immunodeficiency 70, 618969


Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

One of the 25 top novel PID-associated genes in a large-cohort WGS analysis, using BeviMed assessment of enrichment for candidate disease-causing variants in individual genes (
Created: 19 May 2020, 3:54 p.m. | Last Modified: 19 May 2020, 3:54 p.m.
Panel Version: 0.260

Mode of inheritance

primary immunodeficiency




Mode of Inheritance
  • Expert Review Amber
  • Literature
Clinvar variants
Variants in IVNS1ABP
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ivns1abp has been classified as Amber List (Moderate Evidence).

10 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ivns1abp has been classified as Green List (High Evidence).

19 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: IVNS1ABP was added gene: IVNS1ABP was added to COVID-19 research. Sources: Literature Mode of inheritance for gene: IVNS1ABP was set to Unknown