BCL11A

B-cell CLL/lymphoma 11A
OMIM: 606557, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
No list BCL11A in Cerebellar hypoplasia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.87

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • intellectual disability
  • Cerebellar hypoplasia
Green BCL11A in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Dias-Logan syndrome, OMIM:617101
  • Dias-Logan syndrome, MONDO:0014914
  • BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin
Green BCL11A in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BCL11A-related intellectual disability
    • Dias-Logan syndrome, OMIM:617101
    Amber BCL11A in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.68
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dias-Logan syndrome, OMIM:617101
    • Dias-Logan syndrome, MONDO:0014914
    • BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin
    Tags
    • Q3_26_promote_green
    Green BCL11A in Intellectual disability


    Level 2: Developmental disorders
    Version 11.9
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Dias-Logan syndrome, OMIM:617101
    • Dias-Logan syndrome, MONDO:0014914
    • BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin