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Primary immunodeficiency

Gene: IVNS1ABP

Amber List (moderate evidence)

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

3 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: Rating Amber in view of the possibility of incomplete penetrance, and uninformative segregation analysis in 2/3 cases. Awaiting additional publications/clinical evidence to validate association (added to watchlist).
Created: 11 Aug 2020, 2:20 p.m. | Last Modified: 11 Aug 2020, 2:20 p.m.
Panel Version: 2.184
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, 2:27 p.m. | Last Modified: 10 Aug 2020, 2:27 p.m.
Panel Version: 2.175

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

Phenotypes
Immunodeficiency 70, 618969

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes.
Created: 3 Aug 2020, 11:04 a.m. | Last Modified: 3 Aug 2020, 11:04 a.m.
Panel Version: 2.175

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 70, MIM#618969

Publications

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 (https://doi.org/10.1101/499988).
Created: 26 May 2020, 8:36 a.m. | Last Modified: 26 May 2020, 8:36 a.m.
Panel Version: 2.175

Mode of inheritance
Unknown

Phenotypes
primary immunodeficiency

Publications

  • https://doi.org/10.1101/499988

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 70, MIM#618969
Tags
watchlist
OMIM
609209
Clinvar variants
Variants in IVNS1ABP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: IVNS1ABP.

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).

11 Aug 2020, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: IVNS1ABP.

10 Aug 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: IVNS1ABP.

10 Aug 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: IVNS1ABP were changed from primary immunodeficiency to Immunodeficiency 70, MIM#618969

10 Aug 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: IVNS1ABP were set to

10 Aug 2020, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: IVNS1ABP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 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).

26 May 2020, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: IVNS1ABP was added gene: IVNS1ABP was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: IVNS1ABP was set to Unknown Phenotypes for gene: IVNS1ABP were set to primary immunodeficiency