1. Genes and Genomic Entities
  2. BCL11B

BCL11B

B-cell CLL/lymphoma 11B
OMIM: 606558, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green BCL11B in COVID-19 research


Level 2: Viral research
Version 1.147

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • leaky SCID
  • ?Immunodeficiency 49, 617237
  • Immunodeficiencies affecting cellular and humoral immunity
  • Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits
Amber BCL11B in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.85
Latest signed off version: v8.0 (30 Apr 2025)

review 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
Green BCL11B in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.4
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, OMIM:618092
  • Craniosynostosis, MONDO:0015469
Green BCL11B in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BCL11B-related developmental disorder (monoallelic)
    Green BCL11B in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092