Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: BCL10

The 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

• 25365219

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

Green List (high evidence)

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

• 25365219
• 32008135
• 11163238
• 12910267

Green List (high evidence)

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 status

Created: 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 & mechanism

Created: 19 Jun 2018, 5:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
combined immunodeficiency

Publications

• 25365219
• 32008135

I don't know

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 Immunodeficiency

Created: 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:25365219

Created: 11 May 2018, 2:29 p.m.

Comment on mode of inheritance: updated MOI to biallelic PMID: 25365219

Created: 11 May 2018, 2:19 p.m.

Comment on phenotypes: added phenotype from OMIM

Created: 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: ENST00000370580

Created: 17 Apr 2018, 12:12 p.m.