Cerebellar hypoplasia

Gene: BCL11A

No list

BCL11A (B-cell CLL/lymphoma 11A)
EnsemblGeneIds (GRCh38): ENSG00000119866
EnsemblGeneIds (GRCh37): ENSG00000119866
OMIM: 606557, Gene2Phenotype
BCL11A is in 6 panels

1 review

Dmitrijs Rots (RadboudUMC)

Green List (high evidence)

In PMID: 31474318 found 3 patient with DNM AHDC1 variant and cerebellar hypoplasia, and additionally summarized another 9 from the literature (see suplements of the paper).
Sources: Literature
Created: 26 Jul 2021, 12:55 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; Cerebellar hypoplasia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • intellectual disability
  • Cerebellar hypoplasia
OMIM
606557
Clinvar variants
Variants in BCL11A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2021, Gel status: 0

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

Dmitrijs Rots (RadboudUMC)

gene: BCL11A was added gene: BCL11A was added to Cerebellar hypoplasia. Sources: Literature Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BCL11A were set to PMID: 31474318 Phenotypes for gene: BCL11A were set to intellectual disability; Cerebellar hypoplasia Penetrance for gene: BCL11A were set to Complete Review for gene: BCL11A was set to GREEN