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  3. BCL11B
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Combined Immunodeficiency

Gene: BCL11B

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over ten individuals reported, variable features in addition to T-cell abnormalities.
Sources: Expert list
Created: 4 Apr 2020, 3:11 a.m.

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

Created: 4 Apr 2020, 3:11 a.m.

Panel version: 0.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Immunodeficiency 49, MIM# 617237
  • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092
OMIM
606558
Clinvar variants
Variants in BCL11B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcl11b has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bcl11b has been classified as Green List (High Evidence).

4 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BCL11B was added gene: BCL11B was added to Combined Immunodeficiency. Sources: Expert list Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BCL11B were set to 29985992; 27959755 Phenotypes for gene: BCL11B were set to Immunodeficiency 49, MIM# 617237; Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092 Review for gene: BCL11B was set to GREEN