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Primary immunodeficiency

Gene: BCL10

Amber List (moderate evidence)

BCL10 (B-cell CLL/lymphoma 10)
EnsemblGeneIds (GRCh38): ENSG00000142867
EnsemblGeneIds (GRCh37): ENSG00000142867
OMIM: 603517, Gene2Phenotype
BCL10 is in 3 panels

6 reviews

Arina Puzriakova (Genomics England Curator)

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

Eleanor Williams (Genomics England Curator)

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

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Sophie Hambleton (Newcastle University)

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

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • ?Immunodeficiency 37, 616098
  • Combined immunodeficiency with B cell, T cell, and fibroblast defects
  • Recurrent bacterial and viral infections, candidiasis, gastroenteritis
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
for-review
OMIM
603517
Clinvar variants
Variants in BCL10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: bcl10 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: BCL10.

13 Oct 2020, Gel status: 3

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to BCL10. Publications for gene BCL10 were updated from 32048120; 25365219; 32086639 to 32086639; 25365219; 32048120

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: bcl10 has been classified as Green List (High Evidence).

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

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

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to BCL10. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to BCL10. Panel: Primary immunodeficiency disorders

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: bcl10 has been classified as Amber List (Moderate Evidence).

20 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: bcl10 has been classified as Amber List (Moderate Evidence).

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: bcl10 has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: bcl10 has been classified as Green List (High Evidence).

11 May 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for BCL10 were set to 25365219

11 May 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 May 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for BCL10 were set to Combined immunodeficiency with B cell, T cell, and fibroblast defects; ?Immunodeficiency 37, 616098

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to BCL10. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene BCL10 were set to combined immunodeficiency with B cell, T cell, and fibroblast defects

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

BCL10 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

BCL10 was created by Louise Daugherty