Predominantly Antibody Deficiency
Gene: INO80EnsemblGeneIds (GRCh38): ENSG00000128908
EnsemblGeneIds (GRCh37): ENSG00000128908
OMIM: 610169, Gene2Phenotype
INO80 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated individuals reported with some supportive functional data.Created: 16 Mar 2022, 5:09 a.m. | Last Modified: 16 Mar 2022, 5:09 a.m.
Panel Version: 0.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary immunodeficiency, MONDO:0003778
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Primary immunodeficiency, MONDO:0003778
- OMIM
- 610169
- Clinvar variants
- Variants in INO80
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ino80 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: INO80 were changed from to Primary immunodeficiency, MONDO:0003778
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: INO80 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: INO80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ino80 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: INO80 was added gene: INO80 was added to Predominantly antibody deficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: INO80 was set to Unknown