BCL11A Chromosome 2

BCL11 transcription factor A

77 variants 77 Health Risk

Upload your DNA to see your personal genotypes for variants in BCL11A.

What This Gene Does

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Zinc fingers C2H2-type|BAF complex subunits"

Locus Type

gene with protein product

Location

2p16.1

Ensembl

ENSG00000119866

Associated Conditions (17)

Dias-Logan syndrome

Inborn genetic diseases

Developmental disorder

BCL11A-related intellectual disability

BCL11A-related BAFopathy

Marfanoid habitus and intellectual disability

Intellectual disability

Neurodevelopmental delay

BCL11A-related disorder

Postaxial polydactyly

Delayed speech and language development

Global developmental delay

See cases

Cerebellar vermis hypoplasia

Corpus callosum

agenesis of

Congenital cerebellar hypoplasia

Key Variants

RS113307140

Conflicting classifications of pathogenicity

Dias-Logan syndrome, Dias-Logan syndrome

Health Risk

RS146235767

Conflicting classifications of pathogenicity

Dias-Logan syndrome, Inborn genetic diseases, Dias-Logan syndrome

Health Risk

RS1676277997

Conflicting classifications of pathogenicity

Developmental disorder, Inborn genetic diseases, Developmental disorder

Health Risk

RS2103836035

Conflicting classifications of pathogenicity

Health Risk

Health Risk

Dias-Logan syndrome, Dias-Logan syndrome

Health Risk

Health Risk

Dias-Logan syndrome, Dias-Logan syndrome

Health Risk

RS1553353022

Likely pathogenic

Dias-Logan syndrome, Marfanoid habitus and intellectual disability, Dias-Logan syndrome

Health Risk

Health Risk

Health Risk

Health Risk

All Variants (77)

RSID	Category	Clinical Significance	Conditions
RS113307140	Health Risk	Conflicting classifications of pathogenicity	Dias-Logan syndrome, Dias-Logan syndrome
RS146235767	Health Risk	Conflicting classifications of pathogenicity	Dias-Logan syndrome, Inborn genetic diseases, Dias-Logan syndrome
RS1676277997	Health Risk	Conflicting classifications of pathogenicity	Developmental disorder, Inborn genetic diseases, Developmental disorder
RS2103836035	Health Risk	Conflicting classifications of pathogenicity	BCL11A-related intellectual disability, BCL11A-related intellectual disability
RS1249313093	Health Risk	Likely pathogenic	—
RS1382819519	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS1446265434	Health Risk	Likely pathogenic	BCL11A-related BAFopathy, BCL11A-related BAFopathy
RS1489297664	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS1553353022	Health Risk	Likely pathogenic	Dias-Logan syndrome, Marfanoid habitus and intellectual disability, Dias-Logan syndrome
RS1553403745	Health Risk	Likely pathogenic	—
RS1558519731	Health Risk	Likely pathogenic	—
RS1670493461	Health Risk	Likely pathogenic	—
RS1670493547	Health Risk	Likely pathogenic	—
RS1670493597	Health Risk	Likely pathogenic	Intellectual disability, Inborn genetic diseases, Intellectual disability
RS1670493669	Health Risk	Likely pathogenic	—
RS1670495445	Health Risk	Likely pathogenic	—
RS1676202186	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1676269150	Health Risk	Likely pathogenic	—
RS1676302520	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS1676326365	Health Risk	Likely pathogenic	Intellectual disability, Intellectual disability
RS1676346981	Health Risk	Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2103841359	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS2103850075	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS2103860886	Health Risk	Likely pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2466224871	Health Risk	Likely pathogenic	—
RS2466230694	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS2466267591	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS2466269611	Health Risk	Likely pathogenic	Dias-Logan syndrome, BCL11A-related disorder, Dias-Logan syndrome
RS2467282402	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS2467282457	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS886037868	Health Risk	Likely pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS1057524042	Health Risk	Pathogenic	—
RS1303665345	Health Risk	Pathogenic	—
RS1553352926	Health Risk	Pathogenic	Inborn genetic diseases, Dias-Logan syndrome, Inborn genetic diseases
RS1553353092	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1553354668	Health Risk	Pathogenic	—
RS1553403049	Health Risk	Pathogenic	—
RS1553403363	Health Risk	Pathogenic	—
RS1553403551	Health Risk	Pathogenic	—
RS1553403688	Health Risk	Pathogenic	—
RS1553403736	Health Risk	Pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS1572967548	Health Risk	Pathogenic	—
RS1573096202	Health Risk	Pathogenic	—
RS1670145015	Health Risk	Pathogenic	Postaxial polydactyly, Delayed speech and language development, Postaxial polydactyly
RS1676315050	Health Risk	Pathogenic	—
RS2103830741	Health Risk	Pathogenic	Dias-Logan syndrome, Dias-Logan syndrome
RS2103845910	Health Risk	Pathogenic	BCL11A-related BAFopathy, BCL11A-related BAFopathy
RS2103862119	Health Risk	Pathogenic	—
RS2103863117	Health Risk	Pathogenic	BCL11A-related BAFopathy, BCL11A-related BAFopathy
RS2104749307	Health Risk	Pathogenic	—

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