Primary immunodeficiency or monogenic inflammatory bowel disease
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.
Source NHS GMS was added to INO80.
Source North West GLH was added to INO80.
Source London North GLH was added to INO80.
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene INO80 were set to INO80 deficiency, HIGM, severe bacterial infections, Severe bacterial infections, Predominantly Antibody Deficiencies
IUIS Classification February 2018 was added to INO80. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to INO80. Panel: Primary immunodeficiency disorders
Gene: ino80 has been classified as Green List (High Evidence).
Gene: ino80 has been classified as Green List (High Evidence).
Mode of inheritance for gene: INO80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INO80 were set to INO80 deficiency, HIGM; severe bacterial infections
Publications for gene: INO80 were set to 25883595; 25312759
Publications for gene: INO80 were set to 25883595; 25312759
Expert Review Amber was added to INO80. Panel: Primary immunodeficiency disorders
Phenotypes for gene INO80 were set to INO80 deficiency, HIGM
INO80 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
INO80 was created by Louise Daugherty