Lissencephaly and Band Heterotopia
Gene: ISPD
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
Publications for gene: ISPD were set to 22522421
Gene: ispd has been classified as Green List (High Evidence).
Phenotypes for gene: ISPD were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643
Publications for gene: ISPD were set to
Mode of inheritance for gene: ISPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ISPD was added gene: ISPD was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ISPD was set to Unknown