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COVID-19 research

Gene: INO80

Green List (high evidence)

INO80 (INO80 complex subunit)
EnsemblGeneIds (GRCh38): ENSG00000128908
EnsemblGeneIds (GRCh37): ENSG00000128908
OMIM: 610169, Gene2Phenotype
INO80 is in 4 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

One paper describing 2 unrelated patients
Created: 20 Jun 2018, 7:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe bacterial infections

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): INO80 .PanelApp HGNC gene symbol check: INO80 . IUIS Disease: INO80 . IUIS Inheritance: AR .T cells: Nl to low number, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Severe bacterial infections. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert review
Created: 21 Jun 2018, 4:07 p.m.
Comment on publications: PMID: 25312759 Kracker et al (2015) reported an adult and a pediatric patients with recurrent bacterial infections, and normal IgM levels but decreased both IgA and IgG levels. AID, UNG, CD40 and CD40L sequences were normal. WES revealed missense compound heterozygous mutations in the INO80 complex subunit (INO80) gene, a protein involved in DNA repair. Defective switch junction repair was demonstrated in immortalized B cells from the patient, and was corrected with over expression of wild-type INO80.
Created: 21 Jun 2018, 3:25 p.m.
Comment on publications: added publications to support phenotype
Created: 21 Jun 2018, 3:16 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: INO80, GRID_Gene_Symbol: INO80, GRID_Transcript_ENS_Community submitted: ENST00000361937, GRID_Transcript_RefSeq: NM_017553.2, GRID_Transcript_ENS_used_on_Production: ENST00000361937
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • severe bacterial infections
  • Severe bacterial infections
  • Predominantly Antibody Deficiencies
  • INO80 deficiency, HIGM
OMIM
610169
Clinvar variants
Variants in INO80
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: INO80 was added gene: INO80 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: INO80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INO80 were set to 25883595; 25312759 Phenotypes for gene: INO80 were set to severe bacterial infections; Severe bacterial infections; Predominantly Antibody Deficiencies; INO80 deficiency, HIGM