Lissencephaly and Band Heterotopia
Gene: ACTG1

ACTG1 (actin gamma 1)
EnsemblGeneIds (GRCh38): ENSG00000184009
EnsemblGeneIds (GRCh37): ENSG00000184009
OMIM: 102560, Gene2Phenotype
ACTG1 is in 13 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29671837;
- in a cohort of 811 patients, 9 had classic thick lissencephaly and variants in ACTG1

PMID: 27240540;
- 7 patients with ACTG1 variants but only 6 had MRIs
- 4/6 patients with anterior-predominant pachygyria and 3/6 with posterior band heterotopias
- paper cites Verloes 2015 (PMID: 25052316), which reported 8/9 with anterior-predominant pachygyria
Created: 24 Aug 2020, 2:59 a.m. | Last Modified: 24 Aug 2020, 2:59 a.m.

Panel Version: 0.46

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

Phenotypes
Baraitser-Winter syndrome 2 (MIM#614583)

Publications

Created: 24 Aug 2020, 2:59 a.m.
Last Modified: 24 Aug 2020, 2:59 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 2 (MIM#614583)

OMIM

102560

Clinvar variants

Variants in ACTG1

Penetrance

None

Publications

Panels with this gene