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  2. Combined Immunodeficiency
  3. IVNS1ABP
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Combined Immunodeficiency

Gene: IVNS1ABP

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 70, MIM#618969

Created: 2 Aug 2020, 4:49 a.m.
Last Modified: 2 Aug 2020, 4:49 a.m.
Panel version: 0.161

Bryony Thompson (Royal Melbourne Hospital)

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.
Sources: Literature
Created: 30 Jul 2020, 4:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary immunodeficiency

Publications

Created: 30 Jul 2020, 4:01 a.m.

Panel version: 0.160

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 70, MIM#618969
OMIM
609209
Clinvar variants
Variants in IVNS1ABP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IVNS1ABP was added gene: IVNS1ABP was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IVNS1ABP were set to 32499645 Phenotypes for gene: IVNS1ABP were set to Primary immunodeficiency Review for gene: IVNS1ABP was set to GREEN