Lissencephaly and Band Heterotopia
Gene: ACTB

ACTB (actin beta)
EnsemblGeneIds (GRCh38): ENSG00000075624
EnsemblGeneIds (GRCh37): ENSG00000075624
OMIM: 102630, Gene2Phenotype
ACTB is in 20 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Lissencephaly and Band Heterotopia is a feature of Baraitser-Winter syndrome 1 (OMIM).

PMID: 29671837;
- in a cohort of 811 patients, 8 lissencephaly patients had variants in ACTB

PMID: 22366783;
- 8/10 Baraitser-Winter syndrome patients with ACTB variants presented with pachygyria- or pachygyria-band anterior-posterior gradient
Created: 24 Aug 2020, 2:43 a.m. | Last Modified: 24 Aug 2020, 2:43 a.m.

Panel Version: 0.46

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

Phenotypes
Baraitser-Winter syndrome 1 (MIM#243310)

Publications

Created: 24 Aug 2020, 2:43 a.m.
Last Modified: 24 Aug 2020, 2:43 a.m.
Panel version: 0.46

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Baraitser-Winter syndrome 1 (MIM#243310)

OMIM

102630

Clinvar variants

Variants in ACTB

Penetrance

None

Publications

Panels with this gene