Cerebellar and Pontocerebellar Hypoplasia
Gene: BCL11A

BCL11A (B-cell CLL/lymphoma 11A)
EnsemblGeneIds (GRCh38): ENSG00000119866
EnsemblGeneIds (GRCh37): ENSG00000119866
OMIM: 606557, Gene2Phenotype
BCL11A is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Cerebellar atrophy listed as a feature "in some patients" in OMIM

PMID: 27453576 - describes disease mechanism as haploinsufficiency.
Describes 11 children with monoallelic mutations. One is noted as having atrophy of the superior cerebellar vermis, another had a small cerebellar vermis, and another mild hypoplasia of the corpus callosum . Of the children with MRI scans, 3/6 had some indication of a defect.

PMID: 25979662 - microdeletion of only BCL11A. Patient is <4 years old, shows hypoplastic cerebellar vermis and pons
Created: 19 Apr 2020, 10:58 p.m. | Last Modified: 19 Apr 2020, 10:58 p.m.

Panel Version: 0.32

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

Phenotypes
Dias-Logan syndrome 617101

Publications

PMID: 27453576
25979662

Created: 19 Apr 2020, 10:58 p.m.
Last Modified: 19 Apr 2020, 10:58 p.m.
Panel version: 0.32

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Dias-Logan syndrome, MIM# 617101

OMIM

606557

Clinvar variants

Variants in BCL11A

Penetrance

None

Publications

Panels with this gene