Lissencephaly and Band Heterotopia
Gene: DYNC1H1

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable neuronal migration defects resulting in cortical malformations, including pachygyria, lissencephaly, nodular heterotopias, and PMG.
Created: 28 Aug 2020, 10:42 a.m. | Last Modified: 28 Aug 2020, 10:44 a.m.

Panel Version: 0.80

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 13, MIM# 614563

Publications

Created: 28 Aug 2020, 10:42 a.m.
Last Modified: 28 Aug 2020, 10:44 a.m.
Panel version: 0.80

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

Mental retardation, autosomal dominant 13, MIM# 614563

OMIM

600112

Clinvar variants

Variants in DYNC1H1

Penetrance

None

Publications

Panels with this gene