Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Epileptic encephalopathy

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 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added EML1 as a green gene to the panel after advice from Arianna Tucci. All 3 published unrelated families (PMIDs:24859200 and 28556411) with EML1 variants display epilepsy/seizures.
Created: 24 Oct 2017, 3:31 p.m.
PMID:28556411 (Shaheen et al., 2017) identify a 3rd case: a homozygous truncating variant (NM_004434.2:c.1567C>T, p. [Arg523*]) in EML1 in a 2-year-old girl with congenital hydrocephalus, profound global developmental delay and intractable epilepsy.
Created: 24 Oct 2017, 3:28 p.m.
Upon screening of patients with cortical malformations, Kielar et al (PMID:24859200, 2014) report 3 French brothers with a compound het variant (c.481C>T, p.Arg138*, and c.796A>G, p.T243A) in EML1. Two of the brothers had epilepsy. An unrelated Moroccan boy with congenital hydrocephalus, severe psychomotor delay and seizures was homozygous for a W225R variant.
Created: 24 Oct 2017, 3:28 p.m.
Added to EE panel on advice from Arianna Tucci and 3 published cases.
Created: 24 Oct 2017, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Band heterotopia, 600348

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Band heterotopia, 600348
OMIM
602033
Clinvar variants
Variants in EML1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Oct 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

EML1 was added to Epileptic encephalopathypanel. Sources: Literature

24 Oct 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

EML1 was created by rfoulger