Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: BACH2Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.Created: 14 Oct 2020, 12:25 p.m. | Last Modified: 14 Oct 2020, 12:25 p.m.
Panel Version: 2.224
The following PubMed IDs were added to gene BACH2 (OMIM gene MIM#605394): 28530713;30527062. These publications have been associated with the gene by the immunedysregulation subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208
Publications
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
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
Comment on list classification: Changed Red to Green from external review comment and further publications to support gene-disease associationCreated: 6 Jul 2018, 9:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 6 Jul 2018, 9:35 a.m.
3 individuals in 2 kindreds, supportive in vitro data and mouse modelCreated: 29 Jun 2018, 4:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
infantile onset enterocolitis; hypogammaglobulinaemia; BACH2-related immunodeficiency and autoimmunity (BRIDA)
Publications
Gene: bach2 has been classified as Green List (High Evidence).
Source Other was added to BACH2. Publications for gene BACH2 were updated from 27807919; 27680876; 28530713 to 27680876; 28530713; 27807919; 30527062 Rating Changed from Green List (high evidence) to Red List (low evidence)
Source NHS GMS was added to BACH2.
Source North West GLH was added to BACH2.
Source London North GLH was added to BACH2.
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.
Gene: bach2 has been classified as Green List (High Evidence).
Publications for gene: BACH2 were set to 27807919; 27680876; 28530713
Gene: bach2 has been classified as Green List (High Evidence).
Phenotypes for gene: BACH2 were set to Lymphocytic colitis, sinopulmonary infections; Diseases of Immune Dysregulation; infantile onset enterocolitis; hypogammaglobulinaemia; BACH2-related immunodeficiency and autoimmunity (BRIDA)
Publications for gene: BACH2 were set to 28530713
Mode of inheritance for gene: BACH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene BACH2 were set to Lymphocytic colitis, sinopulmonary infections, Diseases of Immune Dysregulation
BACH2 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
BACH2 was created by Louise Daugherty