Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: BCL10The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).Created: 20 Oct 2020, 3:48 p.m. | Last Modified: 20 Oct 2020, 3:48 p.m.
Panel Version: 2.367
The following PubMed IDs were added to entity BCL10: 25365219. These publications have been associated with OMIM phenotype MIM#616098, which is listed for this entity, by the immunodeficiencies 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
Comment on list classification: Based on recent expert reviews and evidence, it has been decided that there is now enough evidence to support a gene-disease association. Therefore, this gene has been promoted from Amber to Green.Created: 15 Apr 2020, 12:57 p.m. | Last Modified: 15 Apr 2020, 12:57 p.m.
Panel Version: 2.58
Two unrelated individuals with detailed immunological phenotyping and two mouse models.Created: 9 Apr 2020, 1:27 a.m. | Last Modified: 9 Apr 2020, 1:27 a.m.
Panel Version: 2.46
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 37, MIM# 616098
Publications
Additional case report describes recurrent infections with same cellular and immunological phenotypes in a child with homozygous null mutation, hence upgrade from amber to green gene statusCreated: 8 Apr 2020, 12:46 p.m. | Last Modified: 8 Apr 2020, 12:46 p.m.
Panel Version: 2.45
Single patient described to date but high degree of confidence in pathogenicity & mechanismCreated: 19 Jun 2018, 5:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined immunodeficiency
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): BCL10 .PanelApp HGNC gene symbol check: BCL10 . IUIS Disease: BCL10 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Nl number, decreased memory and switched B cells, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent bacterial and viral infections, candidiasis, gastroenteritis. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined ImmunodeficiencyCreated: 2 Jul 2018, 10:35 a.m.
Comment on list classification: keep Amber after external clinical review, noted there is a high degree of confidence in pathogenicity & mechanism.Created: 20 Jun 2018, 2:58 p.m.
Reviewed and decided to keep amber until more info on gene and disease association, currently only one affected case in the literature PMID:25365219Created: 11 May 2018, 2:29 p.m.
Comment on mode of inheritance: updated MOI to biallelic PMID: 25365219Created: 11 May 2018, 2:19 p.m.
Comment on phenotypes: added phenotype from OMIMCreated: 11 May 2018, 2:18 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: BCL10, GRID_Gene_Symbol: BCL10, GRID_Transcript_ENS_Community submitted: ENST00000370580, GRID_Transcript_RefSeq: NM_003921.4, GRID_Transcript_ENS_used_on_Production: ENST00000370580Created: 17 Apr 2018, 12:12 p.m.
Tag for-review was removed from gene: BCL10.
Source Expert Review Green was added to BCL10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: bcl10 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: BCL10.
Source Other was added to BCL10. Publications for gene BCL10 were updated from 32048120; 25365219; 32086639 to 32086639; 25365219; 32048120
Gene: bcl10 has been classified as Green List (High Evidence).
Source IUIS Classification December 2019 was added to BCL10. Added phenotypes Recurrent bacterial and viral infections, candidiasis, gastroenteritis; Immunodeficiencies affecting cellular and humoral immunity for gene: BCL10 Publications for gene BCL10 were updated from 25365219 to 32048120; 25365219; 32086639
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 BCL10 were set to Combined immunodeficiency with B cell, T cell, and fibroblast defects, ?Immunodeficiency 37, 616098, Recurrent bacterial and viral infections, candidiasis, gastroenteritis, Immunodeficiencies affecting cellular and humoral immunity
IUIS Classification February 2018 was added to BCL10. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to BCL10. Panel: Primary immunodeficiency disorders
Gene: bcl10 has been classified as Amber List (Moderate Evidence).
Gene: bcl10 has been classified as Amber List (Moderate Evidence).
Gene: bcl10 has been classified as Green List (High Evidence).
Gene: bcl10 has been classified as Green List (High Evidence).
Publications for BCL10 were set to 25365219
Mode of inheritance for BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for BCL10 were set to Combined immunodeficiency with B cell, T cell, and fibroblast defects; ?Immunodeficiency 37, 616098
Expert Review Amber was added to BCL10. Panel: Primary immunodeficiency disorders
Phenotypes for gene BCL10 were set to combined immunodeficiency with B cell, T cell, and fibroblast defects
BCL10 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0
BCL10 was created by Louise Daugherty