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Primary immunodeficiency

Gene: BCL11B

Amber List (moderate evidence)

BCL11B (B-cell CLL/lymphoma 11B)
EnsemblGeneIds (GRCh38): ENSG00000127152
EnsemblGeneIds (GRCh37): ENSG00000127152
OMIM: 606558, Gene2Phenotype
BCL11B is in 4 panels

4 reviews

Eleanor Williams (Genomics England Curator)

The following PubMed IDs were added to gene BCL11B (OMIM gene MIM#606558): 27959755. These publications have been associated with the gene 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
The following PubMed IDs were added to entity BCL11B: 27959755. These publications have been associated with OMIM phenotype MIM#617237, 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, 9:33 a.m. | Last Modified: 13 Oct 2020, 9:33 a.m.
Panel Version: 2.207
Comment on list classification: Following review by the Genomics England clinical team it was decided to promote this gene from red to amber pending further cases with an immune deficiency phenotype.
Created: 21 May 2020, 2:12 p.m. | Last Modified: 21 May 2020, 2:12 p.m.
Panel Version: 2.172
Associated with Immunodeficiency 49 #617237 (AD) in OMIM.

PMID: 29985992 - Lessel et al 2018 - identified de novo heterozygous germline mutations in BCL11B in nine unrelated patients, namely six frameshift, two nonsense and one missense mutation. A further patient inherited a heterozygous frameshift mutation, p.(Asp534Thrfs*29), transmitted from an affected mother with. All analysed individuals exhibited developmental delay and intellectual disability and a severe reduction of peripheral ILC2s and impaired T cell development, but no overt immune deficiency. Patient E:II-1, with a missense variant, was the only patient with suspected immunodeficiency diagnosed upon newborn screening. Other de-novo variants were also detected in some patients.

PMID: 27959755 - Punwani et al 2016 - an infant with "leaky" SCID as well as craniofacial and dermal abnormalities and the absence of a corpus callosum. Exome sequencing revealed a heterozygous de novo missense mutation, p.N441K, in BCL11B. The mutant protein had dominant negative activity, which prevented the wild-type BCL11B to bind DNA, thereby arresting development of the T-cell lineage and disrupting hematopoietic stem-cell migration. bcl11ba-deficient zebrafish recapitulated the phenotype.
Created: 22 Apr 2020, 5:57 p.m. | Last Modified: 22 Apr 2020, 5:58 p.m.
Panel Version: 2.124

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Over ten individuals reported, with variable features in addition to T-cell abnormalities.
Created: 9 Apr 2020, 1:30 a.m. | Last Modified: 9 Apr 2020, 1:30 a.m.
Panel Version: 2.46

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 49, MIM# 617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092

Publications

Louise Daugherty (Genomics England Curator)

Keep Red until more info on gene and disease association. Gene not present on any other PID related panels
Created: 6 Jul 2018, 9:48 a.m.
Comment on publications: added publication from external expert review to support gene-disease association
Created: 6 Jul 2018, 9:44 a.m.

Sophie Hambleton (Newcastle University)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
leaky SCID

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Amber
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • ?Immunodeficiency 49, 617237
  • leaky SCID
  • Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits
  • Immunodeficiencies affecting cellular and humoral immunity
  • Combined immunodeficiencies with associated or syndromic features
OMIM
606558
Clinvar variants
Variants in BCL11B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene BCL11B were updated from 27959755; 32086639; 29296816; 32048120 to 27959755; 32086639; 29296816; 32048120

13 Oct 2020, Gel status: 2

Added New Source, Set publications

Eleanor Williams (Genomics England Curator)

Source Other was added to BCL11B. Publications for gene BCL11B were updated from 32048120; 27959755; 29296816; 32086639 to 27959755; 32086639; 29296816; 32048120

21 May 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bcl11b has been classified as Amber List (Moderate Evidence).

28 Feb 2020, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to BCL11B. Added phenotypes Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits; Combined immunodeficiencies with associated or syndromic features for gene: BCL11B Publications for gene BCL11B were updated from 29296816; 27959755 to 32048120; 27959755; 29296816; 32086639

12 Jul 2018, Gel status: 1

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.

6 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: bcl11b has been classified as Red List (Low Evidence).

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: BCL11B were set to 29296816; 27959755

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: BCL11B were set to ?Immunodeficiency 49, 617237; Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits; Immunodeficiencies affecting cellular and humoral immunity; leaky SCID

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: BCL11B were set to 27959755

6 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: BCL11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: BCL11B were set to Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits; Immunodeficiencies affecting cellular and humoral immunity; leaky SCID

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene BCL11B were set to Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

BCL11B was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

BCL11B was created by Louise Daugherty