Polymicrogyria and Schizencephaly
Gene: EML1
PMID: 31710781; Review of 5 families with patients characterised by severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging of 4 patients, there is megalencephaly with a characteristic ribbon-like subcortical heterotopia combined with partial or complete callosal agenesis and an overlying polymicrogyria-like cortical malformation.Created: 11 Feb 2020, 9:01 p.m. | Last Modified: 11 Feb 2020, 9:01 p.m.
Panel Version: 0.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Band heterotopia (MIM# 600348)
Publications
Gene: eml1 has been classified as Green List (High Evidence).
Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)
Publications for gene: EML1 were set to
Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: EML1 was added gene: EML1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: EML1 was set to Unknown