COVID-19 research
Gene: INO80
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
One paper describing 2 unrelated patientsCreated: 20 Jun 2018, 7:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe bacterial infections
Publications
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 IgMCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed Amber to Green from external expert reviewCreated: 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 phenotypeCreated: 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: ENST00000361937Created: 17 Apr 2018, 12:12 p.m.
Tag gene-checked tag was added to gene: INO80.
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