Lissencephaly and Band Heterotopia
Gene: ISPD

ISPD (isoprenoid synthase domain containing)
EnsemblGeneIds (GRCh38): ENSG00000214960
EnsemblGeneIds (GRCh37): ENSG00000214960
OMIM: 614631, Gene2Phenotype
ISPD is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, a range of cortical malformations reported including cobblestone lissencephaly, agyria, pachygyria, polymicrogyria, hypoplasia of the corpus callosum, partial agenesis of the corpus callosum, cortical thinning, and subcortical heterotopia as well as Dandy-Walker malformation.
Created: 29 Aug 2020, 1:07 a.m. | Last Modified: 29 Aug 2020, 1:07 a.m.

Panel Version: 0.83

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643

Publications

Created: 29 Aug 2020, 1:07 a.m.
Last Modified: 29 Aug 2020, 1:07 a.m.
Panel version: 0.87

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643

OMIM

614631

Clinvar variants

Variants in ISPD

Penetrance

None

Publications

Panels with this gene