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  3. EML1
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Polymicrogyria and Schizencephaly

Gene: EML1

Green List (high evidence)
EML1 (echinoderm microtubule associated protein like 1)
EnsemblGeneIds (GRCh38): ENSG00000066629
EnsemblGeneIds (GRCh37): ENSG00000066629
OMIM: 602033, Gene2Phenotype
EML1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 11 Feb 2020, 9:01 p.m.
Last Modified: 11 Feb 2020, 9:01 p.m.
Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Band heterotopia (MIM# 600348)
OMIM
602033
Clinvar variants
Variants in EML1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eml1 has been classified as Green List (High Evidence).

11 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EML1 were changed from to Band heterotopia (MIM# 600348)

11 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EML1 were set to

11 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EML1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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